- Analytes
- PLCB4
PLCB4
Name: |
phospholipase C beta 4
|
Symbol: |
PLCB4
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Version of Orphanet: |
2023-06-22 14:14:43
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
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Changed: |
22 Jun 2023 - 16:14
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Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACBD5 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ACTB 99.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ACTG1 99.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ALG9 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ALX1 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ALX3 94.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) AMER1 99.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ANKRD11 97.83 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ARCN1 95.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ARHGAP29 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ARHGAP31 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ASXL1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ATR 98.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ATRX 95.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) B3GALT6 73.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) B3GLCT 95.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) B3GAT3 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) B4GALT7 93.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BCOR 97.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BMP2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BMP4 98.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BUB1B 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) C2CD3 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CPLANE1 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CANT1 98.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CASK 95.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CC2D2A 98.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CDC45 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CDH1 96.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CDKN1C 84.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHD1 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHD7 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHRNG 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHST14 97.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHSY1 93.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CKAP2L 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL11A1 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL11A2 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL2A1 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL9A1 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL9A2 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL9A3 94.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COLEC10 98.49 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COLEC11 99.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CTCF 98.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CTNND1 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DDX3X 94.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DDX59 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DHCR7 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DHODH 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DIS3L2 98.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DLG1 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DLL4 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DLX4 98.90 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DNMT3B 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DOCK6 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DVL1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DVL3 98.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DYNC2H1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DYNC2LI1 98.39 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EBP 98.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EDN1 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EDNRA 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EFNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EFTUD2 97.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EIF2S3 97.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EIF4A3 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EOGT 89.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EPG5 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SELENOI 98.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ESCO2 97.31 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ESRP2 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EYA1 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FAM111A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FAM20C 95.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FANCL 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FBXO11 97.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FGD1 95.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FGFR1 98.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FGFR2 99.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FLNA 98.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FLNB 98.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FOXC2 91.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FOXE1 85.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FOXP2 98.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FRAS1 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FREM2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FTO 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GATA3 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GATA6 89.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GDF1 74.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GJA1 99.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GLI3 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GMNN 96.00 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GNAI3 97.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GPC3 95.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GRHL3 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GRIP1 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GYPE 96.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) HDAC8 97.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) HOXA2 98.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) HYLS1 99.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CILK1 98.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IFT140 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IFT172 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IFT52 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IFT80 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BPNT2 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) INTS1 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IRF6 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KANSL1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KAT6A 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KAT6B 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KCNJ2 99.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KDM1A 97.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KDM6A 94.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WASHC5 98.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KIAA0586 93.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KIFBP 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KIF22 98.55 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KIF7 95.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KMT2D 99.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) LMNA 98.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) LMX1B 99.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MAP3K7 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MAPRE2 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MASP1 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MBTPS2 97.08 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MED12 97.56 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MED13L 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MED25 97.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MEIS2 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MEOX1 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) METTL23 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MID1 97.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MKS1 98.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MSX1 97.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NBN 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NEDD4L 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NEK1 98.70 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NIPBL 98.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NOTCH1 98.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NSDHL 98.23 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) OFD1 92.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PAX3 99.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PGAP2 99.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PGM1 97.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PHF8 97.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PHGDH 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIEZO2 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIGA 95.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIGL 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIGN 97.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIGV 99.40 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIK3R2 91.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PLCB4 98.47 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PLEKHA5 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PLEKHA7 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POLR1A 98.85 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POLR1C 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POLR1D 94.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POMT1 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POMT2 98.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PORCN 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PQBP1 97.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PSAT1 99.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PTCH1 97.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PTDSS1 99.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NECTIN1 99.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RAI1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RARB 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RBM10 96.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RBM8A 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RBPJ 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ROR2 97.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPL11 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPL5 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPS17 23.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPS19 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPS26 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPS28 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RSPO2 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RYR1 97.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SALL4 99.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SATB2 99.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SCARF2 92.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SEC23A 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SF3B4 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SHH 96.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SIX1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SIX3 97.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SIX5 95.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SKI 94.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SLC26A2 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMAD2 98.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMAD3 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMAD4 98.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMC1A 97.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMC3 98.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMG9 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMOC1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMS 92.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SNRPB 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SON 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SOX2 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SOX9 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SPECC1L 99.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) STAMBP 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) STIL 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) STRA6 98.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) STXBP1 99.15 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SUMO1 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TBX1 78.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TBX15 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TBX22 98.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TCOF1 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TCTN3 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TELO2 98.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TFAP2A 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TFAP2B 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGDS 98.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGFB2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGFB3 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGFBR1 94.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGFBR2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TMCO1 94.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MYMK 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TP63 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TRAPPC9 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TRIM37 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TSR2 93.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TTC21B 98.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TUBB 99.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TWIST2 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TXNL4A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) UBB 99.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) UQCC2 99.28 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) USP9X 95.07 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) VAX1 87.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WDR19 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DYNC2I2 98.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WDR35 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DYNC2I1 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WNT3 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WNT5A 98.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) XYLT1 89.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) YAP1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZBTB24 99.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZEB2 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZIC2 87.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZIC3 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZMPSTE24 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZSWIM6 88.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) -
Congenital malformation (1721 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 0.00 0 , AARS1 0.00 0 , AASS 0.00 0 , ABAT 0.00 0 , ABCA12 0.00 0 , ABCC6 0.00 0 , ABCC9 0.00 0 , ABCD1 0.00 0 , ABCD3 0.00 0 , ABCD4 0.00 0 , ABHD5 0.00 0 , ABL1 0.00 0 , ACAD9 0.00 0 , ACADVL 0.00 0 , ACAN 0.00 0 , ACE 0.00 0 , ACO2 0.00 0 , ACOX1 0.00 0 , ACP5 0.00 0 , ACSL4 0.00 0 , ACTA1 0.00 0 , ACTA2 0.00 0 , ACTB 0.00 0 , ACTC1 0.00 0 , ACTG1 0.00 0 , ACTG2 0.00 0 , ACVR1 0.00 0 , ACVR2B 0.00 0 , ACY1 0.00 0 , ADAMTS10 0.00 0 , ADAMTS17 0.00 0 , ADAMTS3 0.00 0 , ADAMTSL2 0.00 0 , ADAR 0.00 0 , ADGRG1 0.00 0 , ADGRG6 0.00 0 , ADNP 0.00 0 , ADSL 0.00 0 , AFF3 0.00 0 , AFF4 0.00 0 , AGK 0.00 0 , AGL 0.00 0 , AGPS 0.00 0 , AHCY 0.00 0 , AHDC1 0.00 0 , AHI1 0.00 0 , AIFM1 0.00 0 , AIMP1 0.00 0 , AIPL1 0.00 0 , AIRE 0.00 0 , AKR1C2 0.00 0 , AKT1 0.00 0 , AKT2 0.00 0 , AKT3 0.00 0 , ALDH18A1 0.00 0 , ALDH1A3 0.00 0 , ALDH3A2 0.00 0 , ALDH7A1 0.00 0 , ALDOA 0.00 0 , ALG1 0.00 0 , ALG11 0.00 0 , ALG12 0.00 0 , ALG13 0.00 0 , ALG2 0.00 0 , ALG3 0.00 0 , ALG6 0.00 0 , ALG8 0.00 0 , ALG9 0.00 0 , ALMS1 0.00 0 , ALOX12B 0.00 0 , ALOXE3 0.00 0 , ALPL 0.00 0 , ALX1 0.00 0 , ALX3 0.00 0 , ALX4 0.00 0 , AMACR 0.00 0 , AMBRA1 0.00 0 , AMER1 0.00 0 , AMMECR1 0.00 0 , AMPD2 0.00 0 , AMT 0.00 0 , ANAPC1 0.00 0 , ANKH 0.00 0 , ANKRD11 0.00 0 , ANKRD26 0.00 0 , ANKS6 0.00 0 , ANOS1 0.00 0 , ANTXR1 0.00 0 , ANTXR2 0.00 0 , AP1S2 0.00 0 , AP3B2 0.00 0 , AP4B1 0.00 0 , AP4E1 0.00 0 , AP4M1 0.00 0 , AP4S1 0.00 0 , AR 0.00 0 , ARCN1 0.00 0 , ARFGEF2 0.00 0 , ARHGAP29 0.00 0 , ARHGAP31 0.00 0 , ARID1A 0.00 0 , ARID1B 0.00 0 , ARID2 0.00 0 , ARL13B 0.00 0 , ARL3 0.00 0 , ARL6 0.00 0 , ODAD2 0.00 0 , ARMC9 0.00 0 , ARSA 0.00 0 , SLURP1 0.00 0 , ARSL 0.00 0 , ARVCF 0.00 0 , ARX 0.00 0 , ASAH1 0.00 0 , ASCC1 0.00 0 , ASNS 0.00 0 , ASPA 0.00 0 , ASPH 0.00 0 , ASPM 0.00 0 , ASS1 0.00 0 , ASXL1 0.00 0 , ASXL2 0.00 0 , ASXL3 0.00 0 , ATAD3A 0.00 0 , ATIC 0.00 0 , ATL1 0.00 0 , ATM 0.00 0 , ATP1A2 0.00 0 , ATP6V0A2 0.00 0 , ATP6V1B2 0.00 0 , ATP7A 0.00 0 , ATP8A2 0.00 0 , ATRX 0.00 0 , ATXN10 0.00 0 , AVIL 0.00 0 , B3GALNT2 0.00 0 , B3GALT6 0.00 0 , B3GAT3 0.00 0 , B3GLCT 0.00 0 , B4GALT1 0.00 0 , B4GALT7 0.00 0 , B4GAT1 0.00 0 , B9D1 0.00 0 , B9D2 0.00 0 , BANF1 0.00 0 , BBIP1 0.00 0 , BBS1 0.00 0 , BBS10 0.00 0 , BBS12 0.00 0 , BBS2 0.00 0 , BBS4 0.00 0 , BBS5 0.00 0 , BBS7 0.00 0 , BBS9 0.00 0 , BCAP31 0.00 0 , BCL11A 0.00 0 , BCL9L 0.00 0 , BCOR 0.00 0 , BCS1L 0.00 0 , BDNF 0.00 0 , BFSP2 0.00 0 , BGN 0.00 0 , BHLHA9 0.00 0 , BICC1 0.00 0 , BICD2 0.00 0 , BIN1 0.00 0 , BLM 0.00 0 , BLOC1S6 0.00 0 , BMP1 0.00 0 , BMP2 0.00 0 , BMP4 0.00 0 , BMPER 0.00 0 , BMPR1B 0.00 0 , BNC2 0.00 0 , BOLA3 0.00 0 , BPTF 0.00 0 , BRAF 0.00 0 , BRAT1 0.00 0 , BRCA2 0.00 0 , BRIP1 0.00 0 , BRPF1 0.00 0 , BSND 0.00 0 , BTD 0.00 0 , BUB1 0.00 0 , BUB1B 0.00 0 , BUB3 0.00 0 , C12ORF57 0.00 0 , MTRFR 0.00 0 , C1QBP 0.00 0 , MFRP 0.00 0 , C2CD3 0.00 0 , C4BPA 0.00 0 , C4BPB 0.00 0 , CFAP418 0.00 0 , CA2 0.00 0 , CA5A 0.00 0 , CA8 0.00 0 , CACNA1A 0.00 0 , CACNA1C 0.00 0 , CACNA1D 0.00 0 , CACNA1E 0.00 0 , CACNA1G 0.00 0 , CAMK2A 0.00 0 , CAMK2B 0.00 0 , CAMTA1 0.00 0 , CANT1 0.00 0 , CARS2 0.00 0 , CASK 0.00 0 , CASR 0.00 0 , CBL 0.00 0 , CC2D2A 0.00 0 , CCBE1 0.00 0 , CCDC103 0.00 0 , ODAD1 0.00 0 , ODAD3 0.00 0 , CCDC22 0.00 0 , CCDC28B 0.00 0 , CCDC39 0.00 0 , CCDC40 0.00 0 , CCDC78 0.00 0 , CCDC8 0.00 0 , CCDC88C 0.00 0 , CCM2 0.00 0 , CCND2 0.00 0 , CCNQ 0.00 0 , CD151 0.00 0 , CD55 0.00 0 , CD96 0.00 0 , CDAN1 0.00 0 , CDC45 0.00 0 , CDC6 0.00 0 , CDC73 0.00 0 , CDH1 0.00 0 , CDH11 0.00 0 , CDH3 0.00 0 , CDK13 0.00 0 , CDK5RAP2 0.00 0 , CDK8 0.00 0 , CDKL5 0.00 0 , CDKN1C 0.00 0 , CDON 0.00 0 , CDT1 0.00 0 , CELSR1 0.00 0 , CENPF 0.00 0 , CENPJ 0.00 0 , CEP104 0.00 0 , CEP120 0.00 0 , CEP135 0.00 0 , CEP152 0.00 0 , CEP164 0.00 0 , CEP290 0.00 0 , CEP41 0.00 0 , CEP55 0.00 0 , CEP57 0.00 0 , CEP63 0.00 0 , CEP83 0.00 0 , CERS3 0.00 0 , CERT1 0.00 0 , CFAP298 0.00 0 , CFAP300 0.00 0 , CFAP410 0.00 0 , CFAP53 0.00 0 , CFC1 0.00 0 , CFHR2 0.00 0 , CFL2 0.00 0 , CFTR 0.00 0 , CHAMP1 0.00 0 , CHAT 0.00 0 , CHD3 0.00 0 , CHD4 0.00 0 , CHD7 0.00 0 , CHD8 0.00 0 , CHKB 0.00 0 , CHMP1A 0.00 0 , CHN1 0.00 0 , CHRNA1 0.00 0 , CHRNA3 0.00 0 , CHRNB1 0.00 0 , CHRNB2 0.00 0 , CHRND 0.00 0 , CHRNE 0.00 0 , CHRNG 0.00 0 , CHST11 0.00 0 , CHST14 0.00 0 , CHST3 0.00 0 , CHSY1 0.00 0 , CHUK 0.00 0 , CILK1 0.00 0 , CIT 0.00 0 , CKAP2L 0.00 0 , CLCN7 0.00 0 , CLCNKB 0.00 0 , CLDN10 0.00 0 , CLMP 0.00 0 , CLP1 0.00 0 , CLPB 0.00 0 , CLPP 0.00 0 , CLTC 0.00 0 , CNKSR2 0.00 0 , CNOT1 0.00 0 , CNOT3 0.00 0 , CNTN1 0.00 0 , CNTNAP1 0.00 0 , CNTNAP2 0.00 0 , COASY 0.00 0 , COG1 0.00 0 , COG4 0.00 0 , COG5 0.00 0 , COG6 0.00 0 , COG7 0.00 0 , COG8 0.00 0 , COL10A1 0.00 0 , COL11A1 0.00 0 , COL11A2 0.00 0 , COL12A1 0.00 0 , COL13A1 0.00 0 , COL18A1 0.00 0 , COL1A1 0.00 0 , COL1A2 0.00 0 , COL25A1 0.00 0 , COL2A1 0.00 0 , COL3A1 0.00 0 , COL4A1 0.00 0 , COL4A2 0.00 0 , COL5A1 0.00 0 , COL5A2 0.00 0 , COL6A1 0.00 0 , COL6A2 0.00 0 , COL6A3 0.00 0 , COL7A1 0.00 0 , COL9A1 0.00 0 , COL9A2 0.00 0 , COLEC10 0.00 0 , COLEC11 0.00 0 , COLQ 0.00 0 , COMT 0.00 0 , COQ4 0.00 0 , COQ7 0.00 0 , COQ9 0.00 0 , COX7B 0.00 0 , CPAMD8 0.00 0 , CPLANE1 0.00 0 , CPT2 0.00 0 , CRADD 0.00 0 , CRB1 0.00 0 , CRB2 0.00 0 , CREB3L1 0.00 0 , CREBBP 0.00 0 , CRELD1 0.00 0 , CRH 0.00 0 , CRIPT 0.00 0 , CRLF1 0.00 0 , CRPPA 0.00 0 , CRTAP 0.00 0 , CRX 0.00 0 , CRYAA 0.00 0 , CRYBA1 0.00 0 , CRYBA4 0.00 0 , CRYBB1 0.00 0 , CRYBB2 0.00 0 , CRYBB3 0.00 0 , CRYGC 0.00 0 , CRYGD 0.00 0 , CSF1R 0.00 0 , CSNK2A1 0.00 0 , CSPP1 0.00 0 , CSTA 0.00 0 , CTC1 0.00 0 , CTCF 0.00 0 , CTDP1 0.00 0 , CTNNB1 0.00 0 , CTNND1 0.00 0 , CTNS 0.00 0 , CTSA 0.00 0 , CTSD 0.00 0 , CTSK 0.00 0 , CTU2 0.00 0 , CUL4B 0.00 0 , CUL7 0.00 0 , CUX2 0.00 0 , CWC27 0.00 0 , CXCR4 0.00 0 , CYB5R3 0.00 0 , CYP11A1 0.00 0 , CYP11B1 0.00 0 , CYP17A1 0.00 0 , CYP19A1 0.00 0 , CYP1B1 0.00 0 , CYP21A2 0.00 0 , CYP26B1 0.00 0 , CYP2U1 0.00 0 , CYP4F22 0.00 0 , DACH1 0.00 0 , DAG1 0.00 0 , DARS1 0.00 0 , DCC 0.00 0 , DCDC2 0.00 0 , DCHS1 0.00 0 , DCX 0.00 0 , DDHD2 0.00 0 , DDR2 0.00 0 , DDX11 0.00 0 , DDX3X 0.00 0 , DDX59 0.00 0 , DDX6 0.00 0 , DENND5A 0.00 0 , DHCR24 0.00 0 , DHCR7 0.00 0 , DHDDS 0.00 0 , DHFR 0.00 0 , DHH 0.00 0 , DHODH 0.00 0 , DHTKD1 0.00 0 , DHX30 0.00 0 , DIAPH1 0.00 0 , DIS3L2 0.00 0 , DISP1 0.00 0 , DKC1 0.00 0 , DLG4 0.00 0 , DLL3 0.00 0 , DLL4 0.00 0 , DLX5 0.00 0 , DMD 0.00 0 , DMPK 0.00 0 , DNAAF1 0.00 0 , DNAAF2 0.00 0 , DNAAF3 0.00 0 , DNAAF4 0.00 0 , DNAAF5 0.00 0 , DNAH11 0.00 0 , DNAH5 0.00 0 , DNAH9 0.00 0 , DNAI1 0.00 0 , DNAI2 0.00 0 , DNAJB11 0.00 0 , DNAJC12 0.00 0 , DNAJC19 0.00 0 , DNM1 0.00 0 , DNM1L 0.00 0 , DNM2 0.00 0 , DNMT3A 0.00 0 , DNMT3B 0.00 0 , DOCK6 0.00 0 , DOCK7 0.00 0 , DOK7 0.00 0 , DOLK 0.00 0 , DONSON 0.00 0 , DPAGT1 0.00 0 , DPF2 0.00 0 , DPH1 0.00 0 , DPM1 0.00 0 , DPM2 0.00 0 , DPM3 0.00 0 , DPYD 0.00 0 , DRC1 0.00 0 , DSG1 0.00 0 , DSP 0.00 0 , DSTYK 0.00 0 , DUSP6 0.00 0 , DVL1 0.00 0 , DVL3 0.00 0 , DYM 0.00 0 , DYNC1H1 0.00 0 , DYNC2H1 0.00 0 , DYNC2LI1 0.00 0 , DYRK1A 0.00 0 , DZIP1L 0.00 0 , EARS2 0.00 0 , EBF3 0.00 0 , GLB1 0.00 0 , ECEL1 0.00 0 , EDA 0.00 0 , EDN1 0.00 0 , EDNRA 0.00 0 , EDNRB 0.00 0 , EED 0.00 0 , EEF1A2 0.00 0 , EFL1 0.00 0 , EFNB1 0.00 0 , EFTUD2 0.00 0 , EGR2 0.00 0 , EHBP1L1 0.00 0 , EHHADH 0.00 0 , EHMT1 0.00 0 , EIF2AK3 0.00 0 , EIF2B2 0.00 0 , EIF2B3 0.00 0 , EIF2S3 0.00 0 , EIF4A3 0.00 0 , EIF5A 0.00 0 , ELAC2 0.00 0 , ELMO2 0.00 0 , ELN 0.00 0 , ELOVL4 0.00 0 , EMC1 0.00 0 , EMD 0.00 0 , EMG1 0.00 0 , EML1 0.00 0 , EMX2 0.00 0 , ENPP1 0.00 0 , EOGT 0.00 0 , EP300 0.00 0 , EPG5 0.00 0 , EPHB4 0.00 0 , EPHX1 0.00 0 , ERBB3 0.00 0 , ERCC1 0.00 0 , ERCC2 0.00 0 , ERCC3 0.00 0 , ERCC4 0.00 0 , ERCC5 0.00 0 , ERCC6 0.00 0 , ERCC8 0.00 0 , ERF 0.00 0 , ERGIC1 0.00 0 , ERLIN2 0.00 0 , ESCO2 0.00 0 , ESRRG 0.00 0 , ETFA 0.00 0 , ETFB 0.00 0 , ETFDH 0.00 0 , EVC 0.00 0 , EVC2 0.00 0 , EXOC3L2 0.00 0 , EXOSC3 0.00 0 , EXPH5 0.00 0 , EXT1 0.00 0 , EXT2 0.00 0 , EXTL3 0.00 0 , EYA1 0.00 0 , EZH2 0.00 0 , FA2H 0.00 0 , FANCA 0.00 0 , FAM111A 0.00 0 , HYCC1 0.00 0 , FAM20A 0.00 0 , FAM20C 0.00 0 , FANCB 0.00 0 , FANCC 0.00 0 , FANCD2 0.00 0 , FANCE 0.00 0 , FANCF 0.00 0 , FANCG 0.00 0 , FANCI 0.00 0 , FANCL 0.00 0 , FANCM 0.00 0 , FAR1 0.00 0 , FAT4 0.00 0 , FBLN5 0.00 0 , FBN1 0.00 0 , FBN2 0.00 0 , FBXL4 0.00 0 , FEZF1 0.00 0 , FGD1 0.00 0 , FGF10 0.00 0 , FGF17 0.00 0 , FGF3 0.00 0 , FGF8 0.00 0 , FGF9 0.00 0 , FGFR1 0.00 0 , FGFR2 0.00 0 , FGFR3 0.00 0 , FGG 0.00 0 , FH 0.00 0 , FIG4 0.00 0 , FKBP10 0.00 0 , FKBP14 0.00 0 , FKBP8 0.00 0 , FKRP 0.00 0 , FKTN 0.00 0 , FLNA 0.00 0 , FLNB 0.00 0 , FLNC 0.00 0 , FLRT3 0.00 0 , FLT4 0.00 0 , FLVCR2 0.00 0 , FMN2 0.00 0 , FN1 0.00 0 , FOLR1 0.00 0 , FOXC1 0.00 0 , FOXC2 0.00 0 , FOXE1 0.00 0 , FOXE3 0.00 0 , FOXF1 0.00 0 , FOXG1 0.00 0 , FOXL2 0.00 0 , FOXP2 0.00 0 , FOXP3 0.00 0 , FOXP4 0.00 0 , FOXRED1 0.00 0 , FRAS1 0.00 0 , FREM1 0.00 0 , FREM2 0.00 0 , FRMD4A 0.00 0 , FRMPD4 0.00 0 , FRRS1L 0.00 0 , FTL 0.00 0 , FTO 0.00 0 , FUCA1 0.00 0 , FUT8 0.00 0 , FUZ 0.00 0 , FYCO1 0.00 0 , FZD2 0.00 0 , FZD5 0.00 0 , G6PC3 0.00 0 , GAA 0.00 0 , GABRA1 0.00 0 , GABRB2 0.00 0 , GABRG2 0.00 0 , GALC 0.00 0 , GALE 0.00 0 , GALK1 0.00 0 , GALNS 0.00 0 , GALNT2 0.00 0 , GANAB 0.00 0 , GATA1 0.00 0 , GATA2 0.00 0 , GATA3 0.00 0 , GATA4 0.00 0 , GATA6 0.00 0 , GBA1 0.00 0 , GBA2 0.00 0 , GBE1 0.00 0 , GCDH 0.00 0 , GCSH 0.00 0 , GDF1 0.00 0 , GDF3 0.00 0 , GDF5 0.00 0 , GDF6 0.00 0 , GFAP 0.00 0 , GFM1 0.00 0 , GFPT1 0.00 0 , GFRA1 0.00 0 , GJA1 0.00 0 , GJA3 0.00 0 , GJA8 0.00 0 , GJB2 0.00 0 , GJC2 0.00 0 , GLA 0.00 0 , GLDC 0.00 0 , GLDN 0.00 0 , GLE1 0.00 0 , GLI1 0.00 0 , GLI2 0.00 0 , GLI3 0.00 0 , GLIS2 0.00 0 , GLIS3 0.00 0 , GLUL 0.00 0 , GM2A 0.00 0 , GMNN 0.00 0 , GMPPB 0.00 0 , GNA11 0.00 0 , GNA14 0.00 0 , GNAI1 0.00 0 , GNAI3 0.00 0 , GNAO1 0.00 0 , GNAQ 0.00 0 , GNAS 0.00 0 , GNB1 0.00 0 , GNB5 0.00 0 , GNPAT 0.00 0 , GNPTAB 0.00 0 , GNPTG 0.00 0 , GNS 0.00 0 , GORAB 0.00 0 , GP1BB 0.00 0 , GPAA1 0.00 0 , GPC3 0.00 0 , GPC6 0.00 0 , GPI 0.00 0 , GPKOW 0.00 0 , GPSM2 0.00 0 , GPX4 0.00 0 , GREB1L 0.00 0 , GRHL2 0.00 0 , GRHL3 0.00 0 , GRIN1 0.00 0 , GRIN2B 0.00 0 , GRIN2D 0.00 0 , GRIP1 0.00 0 , GRM1 0.00 0 , GSC 0.00 0 , GSPT2 0.00 0 , GTF2E2 0.00 0 , GTF2H5 0.00 0 , GTPBP3 0.00 0 , GUCY2C 0.00 0 , GUCY2D 0.00 0 , GUSB 0.00 0 , GZF1 0.00 0 , H1-4 0.00 0 , H4C3 0.00 0 , HAAO 0.00 0 , HADHA 0.00 0 , HADHB 0.00 0 , HBA1 0.00 0 , HBA2 0.00 0 , HCCS 0.00 0 , HCFC1 0.00 0 , HDAC8 0.00 0 , HES7 0.00 0 , HESX1 0.00 0 , HGSNAT 0.00 0 , HIBCH 0.00 0 , HIRA 0.00 0 , HIVEP2 0.00 0 , HLX 0.00 0 , HMGA2 0.00 0 , HMX1 0.00 0 , HNF1B 0.00 0 , HNF4A 0.00 0 , HNRNPH2 0.00 0 , HNRNPK 0.00 0 , HOXA1 0.00 0 , HOXA11 0.00 0 , HOXA13 0.00 0 , HOXA2 0.00 0 , HOXB1 0.00 0 , HOXD13 0.00 0 , HPD 0.00 0 , HPGD 0.00 0 , HPSE2 0.00 0 , HR 0.00 0 , HRAS 0.00 0 , HS6ST1 0.00 0 , HSD17B3 0.00 0 , HSD17B4 0.00 0 , HSF4 0.00 0 , HSPD1 0.00 0 , HSPG2 0.00 0 , HUWE1 0.00 0 , HYAL1 0.00 0 , HYLS1 0.00 0 , IARS1 0.00 0 , IBA57 0.00 0 , IDH1 0.00 0 , IDS 0.00 0 , IDUA 0.00 0 , IER3IP1 0.00 0 , IFIH1 0.00 0 , IFITM5 0.00 0 , IFT122 0.00 0 , IFT140 0.00 0 , IFT172 0.00 0 , IFT27 0.00 0 , IFT43 0.00 0 , IFT52 0.00 0 , IFT80 0.00 0 , IFT81 0.00 0 , IFT88 0.00 0 , IGBP1 0.00 0 , IGF1 0.00 0 , IGF1R 0.00 0 , IGF2 0.00 0 , IGFBP7 0.00 0 , IGHMBP2 0.00 0 , IHH 0.00 0 , IKBKG 0.00 0 , IL11RA 0.00 0 , IL17RD 0.00 0 , IL1RAPL1 0.00 0 , BPNT2 0.00 0 , IMPDH1 0.00 0 , INCENP 0.00 0 , INPP5B 0.00 0 , INPP5E 0.00 0 , INPP5K 0.00 0 , INPPL1 0.00 0 , INSR 0.00 0 , INTU 0.00 0 , INVS 0.00 0 , IQCB1 0.00 0 , IRF6 0.00 0 , IRX1 0.00 0 , IRX5 0.00 0 , ITCH 0.00 0 , ITGA3 0.00 0 , ITGA6 0.00 0 , ITGA8 0.00 0 , ITGB4 0.00 0 , ITPR1 0.00 0 , JAG1 0.00 0 , JAM3 0.00 0 , JUP 0.00 0 , KANSL1 0.00 0 , KAT6A 0.00 0 , KAT6B 0.00 0 , KATNB1 0.00 0 , KCNA1 0.00 0 , KCNC3 0.00 0 , KCNH1 0.00 0 , KCNJ1 0.00 0 , KCNJ13 0.00 0 , KCNJ2 0.00 0 , KCNJ6 0.00 0 , KCNJ8 0.00 0 , KCNK9 0.00 0 , KCNQ2 0.00 0 , KCNQ5 0.00 0 , KCNT1 0.00 0 , KCTD1 0.00 0 , KCTD7 0.00 0 , KDM1A 0.00 0 , KDM5C 0.00 0 , KDM6A 0.00 0 , KATNIP 0.00 0 , KIAA0586 0.00 0 , KIAA0753 0.00 0 , BLTP1 0.00 0 , KIDINS220 0.00 0 , KIF11 0.00 0 , KIF14 0.00 0 , KIF1A 0.00 0 , KIF22 0.00 0 , KIF26B 0.00 0 , KIF2A 0.00 0 , KIF5C 0.00 0 , KIF7 0.00 0 , KIFBP 0.00 0 , KISS1R 0.00 0 , KLF1 0.00 0 , KLHL40 0.00 0 , KLHL41 0.00 0 , KLHL7 0.00 0 , KMT2A 0.00 0 , KMT2B 0.00 0 , KMT2C 0.00 0 , KMT2D 0.00 0 , KNL1 0.00 0 , KPTN 0.00 0 , KRAS 0.00 0 , KRIT1 0.00 0 , KRT74 0.00 0 , KYNU 0.00 0 , L1CAM 0.00 0 , L2HGDH 0.00 0 , LAGE3 0.00 0 , LAMA1 0.00 0 , LAMA2 0.00 0 , LAMA5 0.00 0 , LAMB1 0.00 0 , LAMC3 0.00 0 , LARGE1 0.00 0 , LARP7 0.00 0 , LARS2 0.00 0 , LBR 0.00 0 , LCA5 0.00 0 , LEMD3 0.00 0 , LFNG 0.00 0 , LGI4 0.00 0 , LHB 0.00 0 , LHX3 0.00 0 , LHX4 0.00 0 , LIAS 0.00 0 , LIFR 0.00 0 , LIG4 0.00 0 , LINS1 0.00 0 , LIPA 0.00 0 , LIPN 0.00 0 , LIPT1 0.00 0 , LIPT2 0.00 0 , LMBR1 0.00 0 , LMBRD1 0.00 0 , LMNA 0.00 0 , LMNB1 0.00 0 , LMNB2 0.00 0 , LMOD3 0.00 0 , LMX1B 0.00 0 , LONP1 0.00 0 , LRAT 0.00 0 , LRBA 0.00 0 , LRIG2 0.00 0 , LRIT3 0.00 0 , LRP2 0.00 0 , CORIN 0.00 0 , LRP5 0.00 0 , LRRC56 0.00 0 , DNAAF11 0.00 0 , LTBP3 0.00 0 , LTBP4 0.00 0 , LYST 0.00 0 , LZTFL1 0.00 0 , LZTR1 0.00 0 , MAB21L2 0.00 0 , MACF1 0.00 0 , MAF 0.00 0 , MAFB 0.00 0 , MAGEL2 0.00 0 , MAMLD1 0.00 0 , MAN1B1 0.00 0 , MANBA 0.00 0 , MAP2K1 0.00 0 , MAP2K2 0.00 0 , MAP3K1 0.00 0 , MAP3K20 0.00 0 , MAP3K7 0.00 0 , MAPKBP1 0.00 0 , MAPRE2 0.00 0 , MASP1 0.00 0 , MAT1A 0.00 0 , MATN3 0.00 0 , MBOAT7 0.00 0 , MBTPS2 0.00 0 , MCOLN1 0.00 0 , MCPH1 0.00 0 , MDH2 0.00 0 , MECOM 0.00 0 , MECP2 0.00 0 , MECR 0.00 0 , MED12 0.00 0 , MED13L 0.00 0 , MED17 0.00 0 , MED28 0.00 0 , MEF2C 0.00 0 , MEGF10 0.00 0 , MEGF8 0.00 0 , MEIS2 0.00 0 , MEOX1 0.00 0 , MESD 0.00 0 , MESP2 0.00 0 , MFSD2A 0.00 0 , MGP 0.00 0 , MID1 0.00 0 , MIPOL1 0.00 0 , MITF 0.00 0 , MKKS 0.00 0 , MKS1 0.00 0 , MLC1 0.00 0 , MLH1 0.00 0 , MLYCD 0.00 0 , MMACHC 0.00 0 , MMADHC 0.00 0 , MMP13 0.00 0 , MMP15 0.00 0 , MMP21 0.00 0 , MN1 0.00 0 , MNX1 0.00 0 , MOCOS 0.00 0 , MOCS1 0.00 0 , MOCS2 0.00 0 , MOGS 0.00 0 , MPDU1 0.00 0 , MPDZ 0.00 0 , MPL 0.00 0 , MPLKIP 0.00 0 , MPZ 0.00 0 , MRAS 0.00 0 , MRPS16 0.00 0 , MRPS22 0.00 0 , MRPS34 0.00 0 , MSH2 0.00 0 , MSH6 0.00 0 , MSL3 0.00 0 , MSMO1 0.00 0 , MSTO1 0.00 0 , MSX1 0.00 0 , MSX2 0.00 0 , MTM1 0.00 0 , MTO1 0.00 0 , MTOR 0.00 0 , MUSK 0.00 0 , MVK 0.00 0 , MYBPC1 0.00 0 , MYCN 0.00 0 , MYH10 0.00 0 , MYH11 0.00 0 , MYH2 0.00 0 , MYH3 0.00 0 , MYH6 0.00 0 , MYH7 0.00 0 , MYH8 0.00 0 , MYH9 0.00 0 , MYL1 0.00 0 , MYL9 0.00 0 , MYLK 0.00 0 , MYMK 0.00 0 , MYO18B 0.00 0 , MYO9A 0.00 0 , MYOCD 0.00 0 , MYOD1 0.00 0 , MYPN 0.00 0 , MYRF 0.00 0 , MYT1 0.00 0 , NAA10 0.00 0 , NAA15 0.00 0 , NACC1 0.00 0 , NADSYN1 0.00 0 , NAGA 0.00 0 , NAGLU 0.00 0 , NALCN 0.00 0 , NANS 0.00 0 , NAXE 0.00 0 , NBAS 0.00 0 , NBN 0.00 0 , NDE1 0.00 0 , NDP 0.00 0 , NDUFA10 0.00 0 , NDUFAF2 0.00 0 , NDUFAF5 0.00 0 , NDUFB11 0.00 0 , NEB 0.00 0 , NECTIN1 0.00 0 , NECTIN4 0.00 0 , NEDD4L 0.00 0 , NEK1 0.00 0 , NEK9 0.00 0 , NEU1 0.00 0 , NEXMIF 0.00 0 , NF1 0.00 0 , NFIX 0.00 0 , NHEJ1 0.00 0 , NHP2 0.00 0 , NHS 0.00 0 , NIN 0.00 0 , NIPAL4 0.00 0 , NIPBL 0.00 0 , NKX2-5 0.00 0 , NKX3-2 0.00 0 , NKX6-2 0.00 0 , NLRC4 0.00 0 , RMRP 0.00 0 , NMNAT1 0.00 0 , NMNAT2 0.00 0 , NODAL 0.00 0 , NOG 0.00 0 , NONO 0.00 0 , NOTCH1 0.00 0 , NOTCH2 0.00 0 , NOVA2 0.00 0 , NPC1 0.00 0 , NPC2 0.00 0 , NPHP1 0.00 0 , NPHP3 0.00 0 , NPHP4 0.00 0 , NPHS1 0.00 0 , NPRL2 0.00 0 , NR0B1 0.00 0 , NR2F2 0.00 0 , NR5A1 0.00 0 , NRAS 0.00 0 , NRXN2 0.00 0 , NSD1 0.00 0 , NSDHL 0.00 0 , NSMF 0.00 0 , NSUN2 0.00 0 , NT5C2 0.00 0 , NTRK2 0.00 0 , NUAK2 0.00 0 , NUBPL 0.00 0 , NUP107 0.00 0 , NUP62 0.00 0 , NUP88 0.00 0 , NUS1 0.00 0 , NXN 0.00 0 , OBSL1 0.00 0 , OCLN 0.00 0 , OCRL 0.00 0 , ODC1 0.00 0 , OFD1 0.00 0 , OPHN1 0.00 0 , SLC25A15 0.00 0 , ORC4 0.00 0 , ORC6 0.00 0 , OSGEP 0.00 0 , OSTM1 0.00 0 , OTUD5 0.00 0 , OTUD6B 0.00 0 , OTX2 0.00 0 , P3H1 0.00 0 , P4HB 0.00 0 , PACS1 0.00 0 , PAFAH1B1 0.00 0 , PAICS 0.00 0 , PAK3 0.00 0 , PALB2 0.00 0 , PAPSS2 0.00 0 , PARN 0.00 0 , PAX2 0.00 0 , PAX3 0.00 0 , PAX6 0.00 0 , PAX7 0.00 0 , PAX8 0.00 0 , PBX1 0.00 0 , PCGF2 0.00 0 , PCNT 0.00 0 , PCYT1A 0.00 0 , PDCD10 0.00 0 , PDE10A 0.00 0 , PDE4D 0.00 0 , PDE6D 0.00 0 , PDE6H 0.00 0 , PDGFB 0.00 0 , PDGFRB 0.00 0 , PDHA1 0.00 0 , PDHB 0.00 0 , PDHX 0.00 0 , PDSS1 0.00 0 , PDYN 0.00 0 , PEPD 0.00 0 , PET100 0.00 0 , PEX1 0.00 0 , PEX10 0.00 0 , PEX11B 0.00 0 , PEX12 0.00 0 , PEX13 0.00 0 , PEX14 0.00 0 , PEX16 0.00 0 , PEX19 0.00 0 , PEX2 0.00 0 , PEX26 0.00 0 , PEX3 0.00 0 , PEX5 0.00 0 , PEX6 0.00 0 , PEX7 0.00 0 , PFKM 0.00 0 , PGAP1 0.00 0 , PGAP2 0.00 0 , PGAP3 0.00 0 , PGM1 0.00 0 , PGM3 0.00 0 , PHF21A 0.00 0 , PHF6 0.00 0 , PHF8 0.00 0 , PHGDH 0.00 0 , PHIP 0.00 0 , PHOX2B 0.00 0 , PIBF1 0.00 0 , PIEZO1 0.00 0 , PIEZO2 0.00 0 , PIGA 0.00 0 , PIGG 0.00 0 , PIGL 0.00 0 , PIGN 0.00 0 , PIGO 0.00 0 , PIGS 0.00 0 , PIGT 0.00 0 , PIGV 0.00 0 , PIGY 0.00 0 , DNAAF6 0.00 0 , PIK3C2A 0.00 0 , PIK3CA 0.00 0 , PIK3R1 0.00 0 , PIK3R2 0.00 0 , PIP5K1C 0.00 0 , PITX1 0.00 0 , PITX2 0.00 0 , PITX3 0.00 0 , PKD1 0.00 0 , PKD1L1 0.00 0 , PKD2 0.00 0 , PKHD1 0.00 0 , PKLR 0.00 0 , PLAA 0.00 0 , PLAG1 0.00 0 , PLCB1 0.00 0 , PLCB4 0.00 0 , PRKCSH 0.00 0 , PLEC 0.00 0 , PLG 0.00 0 , PLK4 0.00 0 , PLOD1 0.00 0 , PLOD2 0.00 0 , PLOD3 0.00 0 , PLP1 0.00 0 , PLPBP 0.00 0 , PMM2 0.00 0 , PMP22 0.00 0 , PMS2 0.00 0 , PNKP 0.00 0 , PNPLA1 0.00 0 , POC1A 0.00 0 , POGZ 0.00 0 , POLE 0.00 0 , POLG2 0.00 0 , POLR1A 0.00 0 , POLR1B 0.00 0 , POLR1C 0.00 0 , POLR1D 0.00 0 , POLR3A 0.00 0 , POLR3B 0.00 0 , POMGNT1 0.00 0 , POMGNT2 0.00 0 , POMK 0.00 0 , POMT1 0.00 0 , POMT2 0.00 0 , BVES 0.00 0 , PORCN 0.00 0 , POU1F1 0.00 0 , PPIB 0.00 0 , PPP1CB 0.00 0 , PPP2R1A 0.00 0 , PPP2R5D 0.00 0 , PPP3CA 0.00 0 , PQBP1 0.00 0 , PRDM5 0.00 0 , PREPL 0.00 0 , PRG4 0.00 0 , PRIM1 0.00 0 , PRKAG2 0.00 0 , PRKAR1A 0.00 0 , PRKD1 0.00 0 , PRMT7 0.00 0 , PROK2 0.00 0 , PROKR2 0.00 0 , PROP1 0.00 0 , PRR12 0.00 0 , PRRX1 0.00 0 , PRSS56 0.00 0 , PRUNE1 0.00 0 , PRX 0.00 0 , PSAP 0.00 0 , PSAT1 0.00 0 , PSPH 0.00 0 , PTCH1 0.00 0 , PTCH2 0.00 0 , PTDSS1 0.00 0 , PTEN 0.00 0 , PTF1A 0.00 0 , PTH 0.00 0 , PTH1R 0.00 0 , PTHLH 0.00 0 , PTPN11 0.00 0 , PTPN14 0.00 0 , PTS 0.00 0 , PUF60 0.00 0 , PXDN 0.00 0 , PYCR1 0.00 0 , PYCR2 0.00 0 , PYGM 0.00 0 , PYROXD1 0.00 0 , QARS1 0.00 0 , QRICH1 0.00 0 , RAB11A 0.00 0 , RAB11B 0.00 0 , RAB18 0.00 0 , RAB23 0.00 0 , RAB33B 0.00 0 , RAB3GAP1 0.00 0 , RAB3GAP2 0.00 0 , RAB40AL 0.00 0 , RAC1 0.00 0 , NCOA3 0.00 0 , RAD21 0.00 0 , RAD51 0.00 0 , RAD51C 0.00 0 , RAF1 0.00 0 , RAI1 0.00 0 , RAPSN 0.00 0 , RARB 0.00 0 , RARS2 0.00 0 , RASA1 0.00 0 , PRKRA 0.00 0 , RB1 0.00 0 , RBBP8 0.00 0 , RBM10 0.00 0 , RBM8A 0.00 0 , RBPJ 0.00 0 , RCOR1 0.00 0 , RD3 0.00 0 , RDH12 0.00 0 , RECQL4 0.00 0 , RELN 0.00 0 , REN 0.00 0 , RERE 0.00 0 , RET 0.00 0 , RFT1 0.00 0 , RFX6 0.00 0 , RIN2 0.00 0 , RIPK4 0.00 0 , RIT1 0.00 0 , RLIM 0.00 0 , RMND1 0.00 0 , RNASEH2A 0.00 0 , RNASEH2B 0.00 0 , RNASEH2C 0.00 0 , RNASET2 0.00 0 , ROBO1 0.00 0 , ROBO3 0.00 0 , ROGDI 0.00 0 , ROR2 0.00 0 , RORA 0.00 0 , RPE65 0.00 0 , RPGRIP1 0.00 0 , RPGRIP1L 0.00 0 , RPL15 0.00 0 , RPL11 0.00 0 , RPL26 0.00 0 , RPL35A 0.00 0 , RPL5 0.00 0 , RPS10 0.00 0 , RPS17 0.00 0 , RPS19 0.00 0 , RPS23 0.00 0 , RPS24 0.00 0 , RPS26 0.00 0 , RPS6KA3 0.00 0 , RPS7 0.00 0 , RRAS 0.00 0 , RRAS2 0.00 0 , RRM2B 0.00 0 , RSPH4A 0.00 0 , RSPH9 0.00 0 , RSPRY1 0.00 0 , RTEL1 0.00 0 , RTTN 0.00 0 , RUNX2 0.00 0 , RXYLT1 0.00 0 , RYR1 0.00 0 , SACS 0.00 0 , SALL1 0.00 0 , SALL4 0.00 0 , SAMD9 0.00 0 , SAMHD1 0.00 0 , SASS6 0.00 0 , SATB2 0.00 0 , SBDS 0.00 0 , SC5D 0.00 0 , SCARF2 0.00 0 , SCLT1 0.00 0 , SCN1A 0.00 0 , SCN2A 0.00 0 , SCN3A 0.00 0 , SCN4A 0.00 0 , SCO2 0.00 0 , SCUBE3 0.00 0 , SCYL1 0.00 0 , SDCCAG8 0.00 0 , SDR9C7 0.00 0 , SEC23A 0.00 0 , SEC23B 0.00 0 , SEC24D 0.00 0 , SEC61B 0.00 0 , SECISBP2 0.00 0 , SELENON 0.00 0 , SEMA3A 0.00 0 , SEMA3E 0.00 0 , SEPSECS 0.00 0 , SEPTIN9 0.00 0 , SERPINF1 0.00 0 , SERPINH1 0.00 0 , SET 0.00 0 , SETBP1 0.00 0 , SETD1A 0.00 0 , SETD1B 0.00 0 , SETD2 0.00 0 , SETD5 0.00 0 , SF3B4 0.00 0 , SGCG 0.00 0 , SGPL1 0.00 0 , SGSH 0.00 0 , SH3PXD2B 0.00 0 , SHANK1 0.00 0 , SHANK2 0.00 0 , SHANK3 0.00 0 , SHH 0.00 0 , SHOC2 0.00 0 , SHOX 0.00 0 , SHROOM3 0.00 0 , SIK3 0.00 0 , SIL1 0.00 0 , SIN3A 0.00 0 , SIX1 0.00 0 , SIX3 0.00 0 , SIX5 0.00 0 , SIX6 0.00 0 , HHAT 0.00 0 , SLC10A7 0.00 0 , SLC12A1 0.00 0 , SLC12A6 0.00 0 , SLC13A5 0.00 0 , SLC16A2 0.00 0 , SLC17A5 0.00 0 , SLC18A3 0.00 0 , SLC1A2 0.00 0 , SLC20A1 0.00 0 , SLC20A2 0.00 0 , SLC24A4 0.00 0 , SLC25A19 0.00 0 , SLC25A20 0.00 0 , SLC25A22 0.00 0 , SLC25A24 0.00 0 , SLC25A38 0.00 0 , SLC25A4 0.00 0 , SLC26A2 0.00 0 , SLC26A3 0.00 0 , SLC27A4 0.00 0 , SLC29A3 0.00 0 , SLC2A10 0.00 0 , SLC33A1 0.00 0 , SLC35A1 0.00 0 , SLC35A2 0.00 0 , SLC35A3 0.00 0 , SLC35C1 0.00 0 , SLC35D1 0.00 0 , SLC39A8 0.00 0 , SLC45A1 0.00 0 , SLC5A7 0.00 0 , SLC6A17 0.00 0 , SLC6A8 0.00 0 , SLC6A9 0.00 0 , SLC7A9 0.00 0 , SLC9A6 0.00 0 , SLIT2 0.00 0 , SLX4 0.00 0 , SMAD3 0.00 0 , SMAD4 0.00 0 , SMARCA2 0.00 0 , SMARCA4 0.00 0 , SMARCB1 0.00 0 , SMARCC1 0.00 0 , SMARCE1 0.00 0 , SMC1A 0.00 0 , SMC3 0.00 0 , SMCHD1 0.00 0 , SMG9 0.00 0 , SMN1 0.00 0 , SMO 0.00 0 , SMOC1 0.00 0 , SMOC2 0.00 0 , SMPD1 0.00 0 , SMPD4 0.00 0 , SNAP25 0.00 0 , SNAP29 0.00 0 , SNIP1 0.00 0 , SNRPB 0.00 0 , SNRPE 0.00 0 , SNX10 0.00 0 , SNX14 0.00 0 , SON 0.00 0 , SOS1 0.00 0 , SOS2 0.00 0 , SOST 0.00 0 , SOX10 0.00 0 , SOX11 0.00 0 , SOX17 0.00 0 , SOX18 0.00 0 , SOX2 0.00 0 , SOX3 0.00 0 , SOX5 0.00 0 , SOX6 0.00 0 , SOX9 0.00 0 , SP7 0.00 0 , SPAG1 0.00 0 , SPARC 0.00 0 , AFG2A 0.00 0 , SPATA7 0.00 0 , SPECC1L 0.00 0 , SPEG 0.00 0 , SPG11 0.00 0 , SPRED1 0.00 0 , SPRY4 0.00 0 , SPTAN1 0.00 0 , SRCAP 0.00 0 , SRD5A2 0.00 0 , SRD5A3 0.00 0 , SRGAP1 0.00 0 , SRP54 0.00 0 , SRY 0.00 0 , ST14 0.00 0 , ST3GAL3 0.00 0 , ST3GAL5 0.00 0 , STAC3 0.00 0 , STAG2 0.00 0 , STAMBP 0.00 0 , STAT3 0.00 0 , STAT5B 0.00 0 , STIL 0.00 0 , STRA6 0.00 0 , STRADA 0.00 0 , STS 0.00 0 , STX1B 0.00 0 , STXBP1 0.00 0 , SUCLG1 0.00 0 , SUFU 0.00 0 , SULT2B1 0.00 0 , SUMF1 0.00 0 , SUMO1 0.00 0 , SUZ12 0.00 0 , SYN1 0.00 0 , SYNE1 0.00 0 , SYNM 0.00 0 , SZT2 0.00 0 , TAB2 0.00 0 , TAC3 0.00 0 , TACO1 0.00 0 , TACR3 0.00 0 , TAF1 0.00 0 , TAF13 0.00 0 , TAF2 0.00 0 , TALDO1 0.00 0 , TAPT1 0.00 0 , WWTR1 0.00 0 , TBC1D1 0.00 0 , TBC1D20 0.00 0 , TBC1D23 0.00 0 , TBC1D24 0.00 0 , TBC1D32 0.00 0 , TBCD 0.00 0 , TBCE 0.00 0 , TBCK 0.00 0 , TBL1XR1 0.00 0 , TBR1 0.00 0 , TBX1 0.00 0 , TBX15 0.00 0 , TBX18 0.00 0 , TBX20 0.00 0 , TBX22 0.00 0 , TBX3 0.00 0 , TBX4 0.00 0 , TBX5 0.00 0 , TBX6 0.00 0 , TBXT 0.00 0 , TCF12 0.00 0 , TCF20 0.00 0 , TCF4 0.00 0 , TCIRG1 0.00 0 , TCOF1 0.00 0 , DYNLT2B 0.00 0 , TCTN1 0.00 0 , TCTN2 0.00 0 , TCTN3 0.00 0 , TECPR2 0.00 0 , TELO2 0.00 0 , TENM3 0.00 0 , TENT5A 0.00 0 , TFAP2A 0.00 0 , TFAP2B 0.00 0 , TGDS 0.00 0 , TGFB2 0.00 0 , TGFB3 0.00 0 , TGFBR1 0.00 0 , TGFBR2 0.00 0 , TGIF1 0.00 0 , TGM1 0.00 0 , THOC2 0.00 0 , THOC6 0.00 0 , THRA 0.00 0 , THSD1 0.00 0 , TINF2 0.00 0 , TLL1 0.00 0 , TMCO1 0.00 0 , TMEM107 0.00 0 , TMEM138 0.00 0 , TMEM165 0.00 0 , TMEM216 0.00 0 , TMEM231 0.00 0 , TMEM237 0.00 0 , TMEM260 0.00 0 , TMEM38B 0.00 0 , TMEM67 0.00 0 , TMEM70 0.00 0 , TMEM94 0.00 0 , TMEM98 0.00 0 , TMTC3 0.00 0 , TMX2 0.00 0 , TNC 0.00 0 , TNFRSF13B 0.00 0 , TNNI2 0.00 0 , TNNT1 0.00 0 , TNNT3 0.00 0 , TNXB 0.00 0 , TOE1 0.00 0 , TOP3A 0.00 0 , TOR1A 0.00 0 , TP53RK 0.00 0 , TP63 0.00 0 , TPM2 0.00 0 , TPM3 0.00 0 , TRAF3IP1 0.00 0 , TRAF7 0.00 0 , TRAIP 0.00 0 , TRAP1 0.00 0 , TRAPPC11 0.00 0 , TRAPPC12 0.00 0 , TRAPPC9 0.00 0 , TREM2 0.00 0 , TREX1 0.00 0 , TRIM32 0.00 0 , TRIM37 0.00 0 , TRIO 0.00 0 , TRIP11 0.00 0 , TRIP12 0.00 0 , TRIP13 0.00 0 , TRIP4 0.00 0 , TRMT10A 0.00 0 , TRMT10C 0.00 0 , TRPM7 0.00 0 , TRPS1 0.00 0 , TRPV3 0.00 0 , TRPV4 0.00 0 , TRPV6 0.00 0 , TSC1 0.00 0 , TSC2 0.00 0 , TSEN15 0.00 0 , TSEN2 0.00 0 , TSEN34 0.00 0 , TSEN54 0.00 0 , TSFM 0.00 0 , TSPYL1 0.00 0 , TTC21B 0.00 0 , ODAD4 0.00 0 , SKIC3 0.00 0 , TTC7A 0.00 0 , TTC8 0.00 0 , TTC9 0.00 0 , TTI2 0.00 0 , TTN 0.00 0 , TUBA1A 0.00 0 , TUBA8 0.00 0 , TUBB 0.00 0 , TUBB2A 0.00 0 , TUBB2B 0.00 0 , TUBB3 0.00 0 , TUBB4A 0.00 0 , TUBG1 0.00 0 , TUBGCP4 0.00 0 , TUBGCP6 0.00 0 , TUFM 0.00 0 , TULP1 0.00 0 , TWIST1 0.00 0 , TWIST2 0.00 0 , TXNDC15 0.00 0 , TXNL4A 0.00 0 , TYR 0.00 0 , TYROBP 0.00 0 , UBA1 0.00 0 , UBB 0.00 0 , UBE2T 0.00 0 , UBE3A 0.00 0 , UBE3B 0.00 0 , UBR1 0.00 0 , UBTF 0.00 0 , UFD1 0.00 0 , UMOD 0.00 0 , UMPS 0.00 0 , UNC50 0.00 0 , UPF3B 0.00 0 , UPK3A 0.00 0 , UQCRB 0.00 0 , UQCRQ 0.00 0 , UROS 0.00 0 , USP18 0.00 0 , USP27X 0.00 0 , USP9X 0.00 0 , UTRN 0.00 0 , VAMP1 0.00 0 , VANGL1 0.00 0 , VANGL2 0.00 0 , VAX1 0.00 0 , VDR 0.00 0 , VEGFC 0.00 0 , VIPAS39 0.00 0 , VLDLR 0.00 0 , VMA21 0.00 0 , VPS13B 0.00 0 , VPS33B 0.00 0 , VPS53 0.00 0 , VRK1 0.00 0 , VSX2 0.00 0 , VTI1A 0.00 0 , VWA2 0.00 0 , WASHC5 0.00 0 , WBP11 0.00 0 , WDPCP 0.00 0 , WDR11 0.00 0 , WDR19 0.00 0 , WDR26 0.00 0 , DYNC2I2 0.00 0 , WDR35 0.00 0 , WDR4 0.00 0 , DYNC2I1 0.00 0 , WDR62 0.00 0 , WDR73 0.00 0 , WDR81 0.00 0 , WNT1 0.00 0 , WNT10B 0.00 0 , WNT3 0.00 0 , WNT4 0.00 0 , WNT5A 0.00 0 , WNT7A 0.00 0 , WRAP53 0.00 0 , WT1 0.00 0 , WWOX 0.00 0 , XRCC4 0.00 0 , XYLT1 0.00 0 , XYLT2 0.00 0 , YAP1 0.00 0 , YWHAG 0.00 0 , YY1 0.00 0 , ZBTB18 0.00 0 , ZBTB20 0.00 0 , ZC4H2 0.00 0 , ZDHHC9 0.00 0 , ZEB2 0.00 0 , ZFP57 0.00 0 , ZFPM2 0.00 0 , ZFYVE26 0.00 0 , ZIC1 0.00 0 , ZIC2 0.00 0 , ZIC3 0.00 0 , ZMPSTE24 0.00 0 , ZMYND10 0.00 0 , ZMYND11 0.00 0 , ZNF423 0.00 0 , ZNF462 0.00 0 , ZNF469 0.00 0 , ZNF750 0.00 0 , ZNRF3 0.00 0 , ZPR1 0.00 0 , ZSWIM6 0.00 0 , -
Congenital malformation gene panel - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABAT 100.00 0 No comment ABCC6 100.00 0 No comment ABCD1 99.93 0 No comment ABCD3 99.97 0 No comment ABL1 100.00 0 No comment ACAN 98.89 0 No comment ACO2 100.00 0 No comment ACTA1 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADAMTS10 99.88 0 No comment ADAMTS17 89.95 0 No comment ADAMTSL2 100.00 0 No comment ADAR 100.00 0 No comment ADGRG1 100.00 0 No comment ADGRG6 100.00 0 No comment ADSL 100.00 0 No comment AHI1 100.00 0 No comment AIMP1 100.00 0 No comment AIPL1 100.00 0 No comment AIRE 99.88 0 No comment AKR1C2 99.98 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment ALDH1A3 99.83 0 No comment ALMS1 100.00 0 No comment ALPL 100.00 0 No comment ALX1 100.00 0 No comment ALX3 91.36 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment AMT 99.94 0 No comment ANKRD11 100.00 0 No comment ANOS1 95.04 0 No comment ANTXR2 100.00 0 No comment AP4B1 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARL6 100.00 0 No comment ARVCF 100.00 0 No comment ARX 78.98 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASXL1 99.91 0 No comment ATL1 100.00 0 No comment ATM 100.00 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATP8A2 99.93 0 No comment ANTXR1 100.00 0 No comment ATRX 100.00 0 No comment ATXN10 99.48 0 No comment B3GALNT2 85.88 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B3GLCT 94.89 0 No comment B4GALT1 100.00 0 No comment B4GAT1 100.00 0 No comment B9D1 100.00 0 No comment B9D2 100.00 0 No comment BBIP1 100.00 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 100.00 0 No comment BBS5 100.00 0 No comment BBS7 100.00 0 No comment BBS9 100.00 0 No comment BCOR 100.00 0 No comment BDNF 100.00 0 No comment BIN1 100.00 0 No comment BMP2 100.00 0 No comment BMP4 100.00 0 No comment BMPER 100.00 0 No comment BMPR1B 100.00 0 No comment BRAF 96.97 0 No comment BRIP1 100.00 0 No comment BSND 100.00 0 No comment BUB1 100.00 0 No comment BUB1B 100.00 0 No comment BUB3 100.00 0 No comment C12ORF57 100.00 0 No comment CACNA1A 98.78 0 No comment CASK 100.00 0 No comment CBL 100.00 0 No comment CC2D2A 98.16 0 No comment CCBE1 99.97 0 No comment CCDC28B 100.00 0 No comment CCM2 99.98 0 No comment CCNQ 84.41 0 No comment CD96 100.00 0 No comment CDC6 100.00 0 No comment CDH1 98.08 0 No comment CDKL5 100.00 0 No comment CDKN1C 62.25 0 No comment CDON 100.00 0 No comment CDT1 87.95 0 No comment CENPF 100.00 0 No comment CEP164 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP57 100.00 0 No comment CFTR 99.91 0 No comment CHAT 100.00 0 No comment CHD7 100.00 0 No comment CHMP1A 100.00 0 No comment CHN1 99.56 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHSY1 91.67 0 No comment CHUK 99.76 0 No comment CKAP2L 100.00 0 No comment CNTN1 100.00 0 No comment COG4 100.00 0 No comment COL11A1 100.00 0 No comment COL11A2 99.14 0 No comment COL18A1 97.80 0 No comment COL1A1 100.00 0 No comment COL1A2 99.93 0 No comment COL2A1 100.00 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL5A1 98.16 0 No comment COL5A2 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COL7A1 100.00 0 No comment COL9A1 100.00 0 No comment COL9A2 100.00 0 No comment COLEC11 100.00 0 No comment COMT 100.00 0 No comment COX7B 99.88 0 No comment CPLANE1 100.00 0 No comment CPT2 98.71 0 No comment CRB1 100.00 0 No comment CREBBP 100.00 0 No comment CRH 100.00 0 No comment CRLF1 89.81 0 No comment CRPPA 95.75 0 No comment CRX 100.00 0 No comment CSPP1 100.00 0 No comment CTCF 100.00 0 No comment CTNS 100.00 0 No comment CTSA 100.00 0 No comment CUL7 99.99 0 No comment CXCR4 100.00 0 No comment CYP11B1 100.00 0 No comment CYP17A1 100.00 0 No comment CYP19A1 100.00 0 No comment CYP21A2 100.00 0 No comment CYP2U1 93.04 0 No comment DARS1 100.00 0 No comment DCHS1 99.64 0 No comment DCX 100.00 0 No comment DDHD2 100.00 0 No comment DDX59 100.00 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHH 99.75 0 No comment DHODH 100.00 0 No comment DIS3L2 100.00 0 No comment DKC1 100.00 0 No comment DLL3 78.42 0 No comment DLX5 100.00 0 No comment DMD 100.00 0 No comment DMPK 99.97 0 No comment DNM2 99.95 0 No comment DOCK6 99.12 0 No comment DOK7 98.77 0 No comment DPYD 100.00 0 No comment DSP 100.00 0 No comment DUSP6 100.00 0 No comment DYM 100.00 0 No comment DYNC1H1 100.00 0 No comment DYNC2H1 100.00 0 No comment EARS2 100.00 0 No comment GLB1 100.00 0 No comment ECEL1 95.92 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EGR2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2AK3 95.52 0 No comment EIF4A3 100.00 0 No comment EMD 99.84 0 No comment EMG1 100.00 0 No comment EMX2 100.00 0 No comment EOGT 100.00 0 No comment EP300 100.00 0 No comment EPG5 100.00 0 No comment EPHX1 100.00 0 No comment ERBB3 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC4 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERLIN2 100.00 0 No comment ESCO2 100.00 0 No comment EVC 94.45 0 No comment EVC2 99.55 0 No comment EYA1 100.00 0 No comment EZH2 100.00 0 No comment FA2H 92.06 0 No comment FAM111A 100.00 0 No comment FAM20C 92.71 0 No comment FANCA 99.70 0 No comment FANCB 100.00 0 No comment FANCC 100.00 0 No comment FANCD2 100.00 0 No comment FANCE 91.17 0 No comment FANCF 100.00 0 No comment FANCG 100.00 0 No comment FANCI 100.00 0 No comment FANCL 100.00 0 No comment FANCM 100.00 0 No comment FAT4 100.00 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.39 0 No comment FGF10 100.00 0 No comment FGF17 100.00 0 No comment FGF8 94.82 0 No comment FGF9 100.00 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKBP14 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLNB 100.00 0 No comment FLRT3 100.00 0 No comment FLT4 98.20 0 No comment FLVCR2 100.00 0 No comment FOXC1 62.57 0 No comment FOXC2 72.63 0 No comment FOXE1 60.48 0 No comment FOXG1 85.88 0 No comment FRAS1 100.00 0 No comment FREM1 100.00 0 No comment FREM2 100.00 0 No comment FTO 100.00 0 No comment FUZ 100.00 0 No comment G6PC3 100.00 0 No comment GAA 100.00 0 No comment GATA1 100.00 0 No comment GATA4 80.69 0 No comment GATA6 81.11 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCSH 76.04 0 No comment GDF1 58.25 0 No comment GDF3 100.00 0 No comment GDF5 100.00 0 No comment GDF6 93.56 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJA1 100.00 0 No comment GJB2 98.23 0 No comment GJC2 81.91 0 No comment GLDC 96.53 0 No comment GLE1 100.00 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLUL 100.00 0 No comment GMPPB 100.00 0 No comment GNAI3 100.00 0 No comment GNAO1 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GP1BB 25.16 0 No comment GPC3 100.00 0 No comment GPC6 100.00 0 No comment GPI 100.00 0 No comment GPSM2 100.00 0 No comment GRHL3 100.00 0 No comment GRIP1 100.00 0 No comment GRM1 100.00 0 No comment GUCY2D 99.13 0 No comment GUSB 100.00 0 No comment H19 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HCCS 100.00 0 No comment HDAC8 100.00 0 No comment HES7 99.67 0 No comment HESX1 100.00 0 No comment HIBCH 100.00 0 No comment HIRA 99.90 0 No comment HOXA11 99.40 0 No comment HOXA13 73.35 0 No comment HOXA2 99.99 0 No comment HOXD13 80.52 0 No comment HPGD 99.99 0 No comment HRAS 100.00 0 No comment HS6ST1 98.52 0 No comment HSD17B3 100.00 0 No comment HSD17B4 100.00 0 No comment HSPG2 99.43 0 No comment HYAL1 100.00 0 No comment HYLS1 100.00 0 No comment IBA57 87.89 0 No comment CILK1 100.00 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment IFIH1 100.00 0 No comment IFT172 100.00 0 No comment IFT27 100.00 0 No comment IFT80 100.00 0 No comment IFT88 99.71 0 No comment IGBP1 100.00 0 No comment IGHMBP2 100.00 0 No comment IHH 99.88 0 No comment IKBKG 99.74 0 No comment IL10 100.00 0 No comment IL17RD 98.31 0 No comment IMPDH1 97.72 0 No comment INPP5E 99.54 0 No comment INSR 97.31 0 No comment IQCB1 100.00 0 No comment IRF6 100.00 0 No comment ITGA6 100.00 0 No comment ITGA8 99.96 0 No comment ITGB4 98.41 0 No comment ITPR1 100.00 0 No comment JAG1 99.66 0 No comment JAM3 100.00 0 No comment JUP 100.00 0 No comment KANSL1 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNJ13 100.00 0 No comment KCNJ2 100.00 0 No comment KCNK9 100.00 0 No comment KCNQ1OT1 0.55 0 No comment KCNQ2 99.98 0 No comment KCNT1 99.74 0 No comment KCTD1 92.53 0 No comment KCTD7 97.35 0 No comment KDM6A 100.00 0 No comment KIF14 100.00 0 No comment KIF1A 99.90 0 No comment KIFBP 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KISS1R 94.58 0 No comment KMT2D 100.00 0 No comment KRAS 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LCA5 100.00 0 No comment LEMD3 100.00 0 No comment LFNG 82.55 0 No comment LHB 97.18 0 No comment LHX3 94.36 0 No comment LHX4 100.00 0 No comment LIFR 100.00 0 No comment LMBR1 100.00 0 No comment LMNA 99.93 0 No comment LMNB1 97.46 0 No comment LMX1B 99.99 0 No comment LRAT 100.00 0 No comment LRP2 99.96 0 No comment CORIN 98.90 0 No comment LZTFL1 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAP3K1 92.79 0 No comment MASP1 100.00 0 No comment MBTPS2 100.00 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment MED12 99.96 0 No comment MEF2C 100.00 0 No comment MEGF10 100.00 0 No comment MEOX1 100.00 0 No comment MESP2 100.00 0 No comment MFRP 100.00 0 No comment MGP 100.00 0 No comment MID1 100.00 0 No comment MIPOL1 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLH1 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MPL 100.00 0 No comment MPZ 100.00 0 No comment MRPS16 100.00 0 No comment MRPS22 100.00 0 No comment MSH2 100.00 0 No comment MSH6 100.00 0 No comment MSX1 97.41 0 No comment MSX2 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MVK 100.00 0 No comment MYBPC1 100.00 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH8 100.00 0 No comment MYOD1 98.47 0 No comment NAA10 96.03 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEB 99.99 0 No comment NECTIN1 100.00 0 No comment NEK1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NIN 100.00 0 No comment NIPBL 99.98 0 No comment NKX2-5 100.00 0 No comment NMNAT1 100.00 0 No comment NODAL 99.99 0 No comment NOG 100.00 0 No comment NOTCH2 99.76 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPHP3 99.87 0 No comment NPRL2 100.00 0 No comment NR0B1 100.00 0 No comment NR5A1 100.00 0 No comment NRAS 100.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NSMF 95.23 0 No comment NT5C2 100.00 0 No comment OBSL1 98.31 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment SLC25A15 100.00 0 No comment ORC4 100.00 0 No comment ORC6 100.00 0 No comment OTX2 100.00 0 No comment PAFAH1B1 100.00 0 No comment PALB2 100.00 0 No comment PAX2 99.80 0 No comment PAX3 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PDE4D 98.77 0 No comment PDE6D 100.00 0 No comment PDGFB 99.77 0 No comment PDGFRB 100.00 0 No comment PDHA1 98.17 0 No comment PDHB 100.00 0 No comment PDHX 99.87 0 No comment PDYN 100.00 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PFKM 100.00 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHF8 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGV 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PIP5K1C 95.60 0 No comment PITX1 98.27 0 No comment PKHD1 100.00 0 No comment PLCB4 100.00 0 No comment PLEC 99.82 0 No comment PLK4 100.00 0 No comment PLOD1 99.91 0 No comment PLOD3 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMP22 100.00 0 No comment PMS2 99.97 0 No comment PNKP 100.00 0 No comment POLR1C 100.00 0 No comment POLR1D 100.00 0 No comment POLR3A 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PORCN 100.00 0 No comment POU1F1 100.00 0 No comment PQBP1 100.00 0 No comment PRDM5 100.00 0 No comment PRG4 100.00 0 No comment PRKAR1A 100.00 0 No comment PROK2 98.51 0 No comment PROKR2 100.00 0 No comment PROP1 100.00 0 No comment PRRX1 100.00 0 No comment PRSS56 98.00 0 No comment PRX 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTCH2 100.00 0 No comment PTDSS1 100.00 0 No comment PTEN 98.86 0 No comment PTH1R 99.01 0 No comment PTPN11 98.80 0 No comment PYCR1 100.00 0 No comment RAB18 100.00 0 No comment RAB23 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAB40AL 100.00 0 No comment RAD21 100.00 0 No comment RAD51C 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RAPSN 100.00 0 No comment PRKRA 90.07 0 No comment RB1 99.04 0 No comment RBM10 100.00 0 No comment RBM8A 100.00 0 No comment RD3 100.00 0 No comment RDH12 100.00 0 No comment RECQL4 96.37 0 No comment RELN 99.96 0 No comment RET 98.13 0 No comment RIPK4 100.00 0 No comment RIT1 100.00 0 No comment RMND1 100.00 0 No comment RMRP 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNU4ATAC 100.00 0 No comment ROR2 98.67 0 No comment RPE65 100.00 0 No comment RPGRIP1 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPL11 100.00 0 No comment RPL15 86.16 0 No comment RPL26 100.00 0 No comment RPL35A 100.00 0 No comment RPL5 99.37 0 No comment RPS10 100.00 0 No comment RPS17 98.70 0 No comment RPS19 100.00 0 No comment RPS24 100.00 0 No comment RPS26 100.00 0 No comment RPS6KA3 98.71 0 No comment RPS7 92.83 0 No comment RTTN 100.00 0 No comment RUNX2 98.51 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SACS 99.97 0 No comment SALL1 100.00 0 No comment SALL4 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 100.00 0 No comment SC5D 100.00 0 No comment SCARF2 86.46 0 No comment SDCCAG8 100.00 0 No comment SEC23A 100.00 0 No comment SELENON 84.04 0 No comment SEMA3A 100.00 0 No comment SEMA3E 100.00 0 No comment SEPSECS 99.97 0 No comment SEPTIN9 100.00 0 No comment SETBP1 99.99 0 No comment SF3B4 100.00 0 No comment SH3PXD2B 99.68 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SIX1 100.00 0 No comment SIX3 99.59 0 No comment SIX5 88.67 0 No comment SIX6 100.00 0 No comment HHAT 90.28 0 No comment SLC12A1 100.00 0 No comment SLC12A6 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A19 100.00 0 No comment SLC26A2 99.96 0 No comment SLC2A10 98.97 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35D1 99.99 0 No comment SLC6A8 98.78 0 No comment SLC9A6 99.96 0 No comment SLX4 100.00 0 No comment SMAD3 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMOC1 99.36 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX2 98.05 0 No comment SOX3 85.62 0 No comment SOX9 97.88 0 No comment SPATA7 100.00 0 No comment SPECC1L 100.00 0 No comment SPG11 100.00 0 No comment SPRED1 100.00 0 No comment SPRY4 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A2 100.00 0 No comment SRD5A3 99.42 0 No comment SRY 39.13 0 No comment STAC3 100.00 0 No comment STAMBP 100.00 0 No comment STAT3 100.00 0 No comment STS 100.00 0 No comment STXBP1 100.00 0 No comment SUFU 100.00 0 No comment SUMO1 99.91 0 No comment SYNE1 100.00 0 No comment TACR3 100.00 0 No comment TAF2 100.00 0 No comment WWTR1 99.81 0 No comment TBC1D20 93.59 0 No comment TBX1 77.39 0 No comment TBX15 100.00 0 No comment TBX22 100.00 0 No comment TBX3 99.88 0 No comment TBX4 94.32 0 No comment TBX5 100.00 0 No comment TBX6 100.00 0 No comment TBXT 100.00 0 No comment TCF4 100.00 0 No comment TCOF1 99.99 0 No comment TCTN1 93.78 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TECPR2 100.00 0 No comment TFAP2A 100.00 0 No comment TGFB3 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment TGIF1 100.00 0 No comment TMCO1 100.00 0 No comment TMEM138 100.00 0 No comment TMEM216 100.00 0 No comment TMEM231 100.00 0 No comment TMEM237 99.97 0 No comment TMEM67 100.00 0 No comment TMEM70 100.00 0 No comment TNNI2 100.00 0 No comment TNNT3 100.00 0 No comment TNXB 100.00 0 No comment TP63 100.00 0 No comment TPM2 100.00 0 No comment TRAPPC9 99.98 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRIM32 100.00 0 No comment TRIP11 100.00 0 No comment TRPV4 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 94.23 0 No comment TSPYL1 100.00 0 No comment TTC8 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBGCP6 100.00 0 No comment TULP1 100.00 0 No comment TWIST1 70.93 0 No comment TYR 100.00 0 No comment TYROBP 100.00 0 No comment UBA1 100.00 0 No comment UBB 100.00 0 No comment UBE3A 100.00 0 No comment UBE3B 100.00 0 No comment UFD1 100.00 0 No comment UPF3B 100.00 0 No comment UPK3A 99.39 0 No comment UTRN 100.00 0 No comment VANGL1 100.00 0 No comment VANGL2 100.00 0 No comment VAX1 89.49 0 No comment VIPAS39 100.00 0 No comment VPS13B 99.25 0 No comment VPS33B 100.00 0 No comment VSX2 100.00 0 No comment VTI1A 100.00 0 No comment WASHC5 100.00 0 No comment WDPCP 100.00 0 No comment WDR11 100.00 0 No comment WDR19 100.00 0 No comment DYNC2I2 93.01 0 No comment WDR35 100.00 0 No comment DYNC2I1 99.86 0 No comment WDR62 100.00 0 No comment WDR81 99.97 0 No comment WNT10B 98.99 0 No comment WNT3 100.00 0 No comment WNT4 92.22 0 No comment WNT5A 99.97 0 No comment WNT7A 100.00 0 No comment WT1 96.46 0 No comment WWOX 100.00 0 No comment ZBTB18 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZFPM2 99.96 0 No comment ZFYVE26 100.00 0 No comment ZIC1 100.00 0 No comment ZIC2 80.54 0 No comment ZMPSTE24 100.00 0 No comment ZNF423 100.00 0 No comment ZNF469 99.70 0 No comment -
Intellectual disability/Epilepsy (1091 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 99.35 0 Vissers et al., EJHG 2015 : Noonan syndrome ABCC9 99.41 0 Hypertrichotic osteochondrodysplasia ABCD1 99.49 0 Adrenoleukodystrophy ABHD5 98.48 0 Chanarin-Dorfman syndrome ACAD9 99.57 0 Mitochondrial complex I deficiency due to ACAD9 deficiency ACO2 99.66 0 Infantile cerebellar-retinal degeneration ACOX1 99.49 0 Peroxisomal acyl-CoA oxidase deficiency ACSL4 91.09 0 Mental retardation, X-linked 63 ACTB 99.34 0 Baraitser-Winter syndrome 1 ACTG1 99.69 0 Baraitser-Winter syndrome 2 ACY1 99.67 0 Aminoacylase 1 deficiency ADAR 99.45 0 Aicardi-Goutieres syndrome 6 ADAT3 81.40 0 Mental retardation, autosomal recessive 36 ADGRG1 99.67 0 Polymicrogyria, bilateral frontoparietal ADK 98.74 0 Hypermethioninemia due to adenosine kinase deficiency ADNP 99.55 0 Helsmoortel-van der Aa syndrome ADSL 99.58 0 Adenylosuccinase deficiency AFF2 90.80 0 Mental retardation, X-linked, FRAXE type AGA 99.60 0 Aspartylglucosaminuria AGPAT2 91.26 0 Lipodystrophy, congenital generalized, type 1 AHCY 99.67 0 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase AHDC1 99.68 0 Xia-Gibbs syndrome AHI1 99.05 0 Joubert syndrome 3 AIMP1 96.88 0 Leukodystrophy, hypomyelinating, 3 AKT3 98.82 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ALDH18A1 99.66 0 Cutis laxa, autosomal recessive, type IIIA ALDH3A2 99.31 0 Sjogren-Larsson syndrome ALDH4A1 96.44 0 Hyperprolinemia, type II ALDH5A1 93.04 0 Succinic semialdehyde dehydrogenase deficiency ALDH7A1 99.00 0 Epilepsy, pyridoxine-dependent ALG1 99.43 0 Congenital disorder of glycosylation, type Ik ALG11 99.57 0 Congenital disorder of glycosylation, type Ip ALG12 99.69 0 Congenital disorder of glycosylation, type Ig ALG13 92.88 0 Epileptic encephalopathy, early infantile, 36 ALG2 97.14 0 Myasthenic syndrome, congenital, 14, with tubular aggregates ALG3 99.59 0 Congenital disorder of glycosylation, type Id ALG6 98.36 0 Congenital disorder of glycosylation, type Ic ALG9 96.33 0 Gillessen-Kaesbach-Nishimura syndrome ALMS1 98.27 0 Alstrom syndrome ALX1 99.52 0 Frontonasal dysplasia 3 ALX4 99.07 0 Frontonasal dysplasia 2 AMER1 99.96 0 Osteopathia striata with cranial sclerosis AMPD2 99.69 0 Pontocerebellar hypoplasia, type 9 AMT 99.69 0 Glycine encephalopathy ANK3 99.47 0 Mental retardation, autosomal recessive, 37 ANKH 99.64 0 Craniometaphyseal dysplasia ANKRD11 99.68 0 KBG syndrome AP1S1 99.50 0 MEDNIK syndrome AP1S2 88.78 0 Mental retardation, X-linked syndromic 5 AP4B1 99.61 0 Spastic paraplegia 47, autosomal recessive AP4M1 99.68 0 Spastic paraplegia 50, autosomal recessive AP4S1 99.48 0 Spastic paraplegia 52, autosomal recessive APTX 99.02 0 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ARCN1 99.27 0 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay ARFGEF2 99.31 0 Periventricular heterotopia with microcephaly ARG1 99.53 0 Argininemia ARHGAP31 99.60 0 Adams-Oliver syndrome 1 ARHGEF2 99.64 0 Neurodevelopmental disorder with midbrain and hindbrain malformations ARHGEF9 97.26 0 Epileptic encephalopathy, early infantile, 8 ARID1A 97.02 0 Coffin-Siris syndrome 2 ARID1B 97.57 0 Coffin-Siris syndrome 1 ARID2 99.33 0 Coffis-Siris syndrome 6 ARL13B 98.36 0 Joubert syndrome 8 ARL6 99.09 0 Bardet-Biedl syndrome 3 ARSL 90.38 0 Chondrodysplasia punctata, X-linked recessive ARX 65.25 0 Mental retardation, X-linked 29 and others ASH1L 99.53 0 Okamoto et al., AJMG 2017 : MCA/ID syndrome ASNS 99.42 0 Asparagine synthetase deficiency ASPA 99.17 0 Canavan disease ASPM 98.50 0 Microcephaly 5, primary, autosomal recessive ASXL1 95.03 0 Bohring-Opitz syndrome ASXL3 98.20 0 Bainbridge-Ropers syndrome ATIC 96.73 0 AICA-ribosiduria due to ATIC deficiency ATP6V0A2 99.12 0 Cutis laxa, autosomal recessive, type IIA ATP7A 94.32 0 Menkes disease ATR 99.17 0 Seckel syndrome 1 ATRIP 95.19 0 Ogi et al., PLoS Genet 2012 : Seckel syndrome ATRX 92.10 0 Mental retardation-hypotonic facies syndrome, X-linked AUH 96.75 0 3-methylglutaconic aciduria, type I AUTS2 97.55 0 Mental retardation, autosomal dominant 26 B3GLCT 92.21 0 Peters-plus syndrome B4GALT1 98.41 0 Congenital disorder of glycosylation, type IId B4GALT7 83.36 0 Ehlers-Danlos syndrome with short stature and limb anomalies BBIP1 99.64 0 Bardet-Biedl syndrome 18 BBS1 99.66 0 Bardet-Biedl syndrome 1 BBS10 99.57 0 Bardet-Biedl syndrome 10 BBS12 99.52 0 Bardet-Biedl syndrome 12 BBS2 99.32 0 Bardet-Biedl syndrome 2 BBS4 99.49 0 Bardet-Biedl syndrome 4 BBS5 98.49 0 Bardet-Biedl syndrome 5 BBS7 99.00 0 Bardet-Biedl syndrome 7 BBS9 98.68 0 Bardet-Biedl syndrome 9 BCKDHB 98.82 0 Maple syrup urine disease, type Ib BCL11A 99.16 0 Dias-Logan syndrome BCOR 96.85 0 Microphthalmia, syndromic 2 BCS1L 99.69 0 Leigh syndrome BLM 99.07 0 Bloom syndrome BRAF 94.78 0 Noonan syndrome 7 BRPF1 99.67 0 Intellectual developmental disorder with dysmorphic facies and ptosis BRWD3 93.74 0 Mental retardation, X-linked 93 BSCL2 99.67 0 Encephalopathy, progressive, with or without lipodystrophy BTD 99.68 0 Biotinidase deficiency BUB1B 99.40 0 Mosaic variegated aneuploidy syndrome 1 C12ORF57 99.69 0 Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie. C19ORF12 99.69 0 Neurodegeneration with brain iron accumulation 4 C2CD3 99.44 0 Orofaciodigital syndrome XIV CPLANE1 98.89 0 Joubert syndrome 17 CA8 99.19 0 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 CACNA1A 99.12 0 Epileptic encephalopathy, early infantile, 42 CACNA1C 99.65 0 Timothy syndrome CACNA1D 99.50 0 Primary aldosteronism, seizures, and neurologic abnormalities CAMK2A 99.67 0 Mental retardation, autosomal dominant 53 CAMK2B 96.34 0 Mental retardation, autosomal dominant 54 CANT1 99.60 0 Desbuquois dysplasia 1 CASK 95.36 0 Mental retardation and microcephaly with pontine and cerebellar hypoplasia CAV1 99.67 0 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome CAVIN1 99.31 0 Lipodystrophy, congenital generalized, type 4 CBL 99.54 0 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia CBS 99.69 0 Homocystinuria, B6-responsive and nonresponsive types CC2D1A 99.64 0 Mental retardation, autosomal recessive 3 CC2D2A 99.11 0 Joubert syndrome 9 CCDC22 99.91 0 Ritscher-Schinzel syndrome 2 CCDC39 98.07 0 Ciliary dyskinesia, primary, 14 CCDC78 99.69 0 Myopathy, centronuclear, 4 CCDC88C 99.38 0 Hydrocephalus, nonsyndromic, autosomal recessive CD96 99.13 0 C syndrome CDC45 99.57 0 Meier-Gorlin syndrome 7 CDC6 99.32 0 Meier-Gorlin syndrome 5 CDH15 96.19 0 Mental retardation, autosomal dominant 3 CDK13 95.39 0 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder CDK5RAP2 99.45 0 Microcephaly 3, primary, autosomal recessive CDKL5 87.62 0 Epileptic encephalopathy, early infantile, 2 CDON 98.90 0 Holoprosencephaly 11 CDT1 89.72 0 Meier-Gorlin syndrome 4 CENPJ 99.19 0 Microcephaly 6, primary, autosomal recessive CEP135 97.81 0 Microcephaly 8, primary, autosomal recessive CEP152 98.40 0 Microcephaly 9, primary, autosomal recessive CEP290 97.64 0 Joubert syndrome 5 CEP41 99.07 0 Joubert syndrome 15 CEP57 99.09 0 Mosaic variegated aneuploidy syndrome 2 CEP63 99.06 0 Seckel syndrome 6 CHAMP1 99.63 0 Mental retardation, autosomal dominant 40 CHAT 97.70 0 Myasthenic syndrome, congenital, 6, presynaptic CHD2 99.18 0 Epileptic encephalopathy, childhood-onset CHD4 99.65 0 Sifrim-Hitz-Weiss syndrome CHD7 99.53 0 CHARGE syndrome CHD8 99.58 0 Autism, susceptibility to, 18 CHKB 97.97 0 Muscular dystrophy, congenital, megaconial type CHMP1A 99.59 0 Pontocerebellar hypoplasia, type 8 CHRNA4 90.96 0 Epilepsy, nocturnal frontal lobe, 1 CHRND 99.68 0 Myasthenic syndrome, congenital, 3B, fast-channel CISD2 98.61 0 Wolfram syndrome 2 CLCN4 99.27 0 Mental retardation, X-linked 49/15 CLN3 99.69 0 Ceroid lipofuscinosis, neuronal, 3 CLN5 97.69 0 Ceroid lipofuscinosis, neuronal, 5 CLN6 85.06 0 Ceroid lipofuscinosis, neuronal, 6 CLN8 99.69 0 Ceroid lipofuscinosis, neuronal, 8 CLP1 99.68 0 Pontocerebellar hypoplasia, type 10 CLPB 99.62 0 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia CNKSR2 91.50 0 Houge et al., Mol Syndromol 2012 : ID CNTNAP2 99.39 0 Pitt-Hopkins like syndrome 1 COASY 99.68 0 Neurodegeneration with brain iron accumulation 6 COG1 98.34 0 Congenital disorder of glycosylation, type IIg COG5 99.11 0 Congenital disorder of glycosylation, type IIi COG6 98.39 0 Congenital disorder of glycosylation, type IIl COG7 99.66 0 Congenital disorder of glycosylation, type IIe COG8 97.38 0 Congenital disorder of glycosylation, type IIh COL4A1 97.86 0 Porencephaly 1 COL4A2 99.62 0 Porencephaly 2 CERT1 99.15 0 Mental retardation, autosomal dominant 34 COLEC10 99.16 0 Mental retardation, autosomal dominant 34 COLEC11 99.67 0 3MC syndrome 2 COQ2 94.52 0 Coenzyme Q10 deficiency, primary, 1 COQ4 98.74 0 Coenzyme Q10 deficiency, primary, 7 COQ6 99.60 0 Coenzyme Q10 deficiency, primary, 6 COQ7 99.40 0 Coenzyme Q10 deficiency, primary, 8 COQ8A 99.69 0 Coenzyme Q10 deficiency, primary, 4 COQ9 98.23 0 Coenzyme Q10 deficiency, primary, 5 COX10 99.65 0 Leigh syndrome due to mitochondrial COX4 deficiency CRADD 99.63 0 Mental retardation, autosomal recessive 34, with variant lissencephaly CRBN 98.86 0 Mental retardation, autosomal recessive 2 CREBBP 99.62 0 Rubinstein-Taybi syndrome 1 CSNK2A1 99.32 0 Okur-Chung neurodevelopmental syndrome CSPP1 98.95 0 Joubert syndrome 21 CTC1 99.57 0 Cerebroretinal microangiopathy with calcifications and cysts CTCF 99.65 0 Mental retardation, autosomal dominant 21 CTNNB1 99.65 0 Mental retardation, autosomal dominant 19 CTSA 99.59 0 Galactosialidosis CTSD 94.51 0 Ceroid lipofuscinosis, neuronal, 10 CUL4B 84.65 0 Mental retardation, X-linked, syndromic 15 (Cabezas type) CYB5R3 88.44 0 Methemoglobinemia, type I CYP27A1 97.94 0 Cerebrotendinous xanthomatosis D2HGDH 98.50 0 D-2-hydroxyglutaric aciduria DAG1 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 DARS2 99.20 0 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation DCAF17 93.81 0 Woodhouse-Sakati syndrome DCC 99.55 0 Mirror movements 1 and/or agenesis of the corpus callosum DCPS 99.69 0 Al-Raqad syndrome DCX 96.94 0 Lissencephaly, X-linked DDB2 99.69 0 Xeroderma pigmentosum, group E, DDB-negative subtype DDHD2 97.74 0 Spastic paraplegia 54, autosomal recessive DDX11 99.66 0 Warsaw breakage syndrome DDX3X 96.52 0 Mental retardation, X-linked 102 DEAF1 92.63 0 Mental retardation, autosomal dominant 24 DHCR24 99.34 0 Desmosterolosis DHCR7 99.68 0 Smith-Lemli-Opitz syndrome DHFR 98.50 0 Megaloblastic anemia due to dihydrofolate reductase deficiency DHX30 99.51 0 Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. DIAPH1 95.85 0 Seizures, cortical blindness, microcephaly syndrome DKC1 91.60 0 Dyskeratosis congenita, X-linked DLD 99.08 0 Dihydrolipoamide dehydrogenase deficiency DLG3 98.91 0 Mental retardation, X-linked 90 DLL4 99.61 0 Adams-Oliver syndrome 6 DNAJC19 97.60 0 3-methylglutaconic aciduria, type V DNM1 96.84 0 Epileptic encephalopathy, early infantile, 31 DNMT3A 99.69 0 Tatton-Brown-Rahman syndrome DNMT3B 99.69 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOCK6 97.92 0 Adams-Oliver syndrome 2 DOCK8 99.24 0 Hyper-IgE recurrent infection syndrome, autosomal recessive DPAGT1 99.68 0 Congenital disorder of glycosylation, type Ij DPH1 99.67 0 Developmental delay with short stature, dysmorphic features, and sparse hair DPM1 99.27 0 Congenital disorder of glycosylation, type Ie DPP6 99.57 0 Mental retardation, autosomal dominant 33 DSCAM 99.29 0 Wang et al., Nat Commun 2016 : Autisme DYNC1H1 99.50 0 Mental retardation, autosomal dominant 13 DYRK1A 99.53 0 Mental retardation, autosomal dominant 7 EARS2 99.64 0 Combined oxidative phosphorylation deficiency 12 EBF3 98.59 0 Hypotonia, ataxia, and delayed development syndrome EBP 99.89 0 MEND syndrome ECHS1 98.49 0 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency EDC3 99.68 0 Mental retardation, autosomal recessive 50 EEF1A2 88.74 0 Mental retardation, autosomal dominant 38 EFNB1 99.39 0 Craniofrontonasal dysplasia EFTUD2 99.44 0 Mandibulofacial dysostosis, Guion-Almeida type EHMT1 95.40 0 Kleefstra syndrome EIF2AK3 94.12 0 Wolcott-Rallison syndrome EIF2S3 97.88 0 Mental retardation, X-linked, syndromic, Borck type ELOVL4 99.45 0 Ichthyosis, spastic quadriplegia, and mental retardation ELP2 98.99 0 Mental retardation, autosomal recessive 58 EML1 96.28 0 Band heterotopia EMX2 99.48 0 Schizencephaly ENTPD1 99.05 0 Spastic paraplegia 64, autosomal recessive EOGT 99.33 0 Adams-Oliver syndrome 4 EP300 99.56 0 Rubinstein-Taybi syndrome 2 EPB41L1 99.69 0 Mental retardation, autosomal dominant 11 EPG5 99.47 0 Vici syndrome ERCC2 99.67 0 Cerebrooculofacioskeletal syndrome 2 ERCC3 99.68 0 Xeroderma pigmentosum, group B ERCC4 99.35 0 Xeroderma pigmentosum, type F/Cockayne syndrome ERCC5 99.48 0 Xeroderma pigmentosum, group G/Cockayne syndrome ERCC6 99.07 0 Cerebrooculofacioskeletal syndrome 1 ERCC8 99.27 0 Cockayne syndrome, type A ERLIN2 99.32 0 Spastic paraplegia 18, autosomal recessive ESCO2 98.50 0 Roberts syndrome ETHE1 99.60 0 Ethylmalonic encephalopathy EXOSC3 99.53 0 Pontocerebellar hypoplasia, type 1B EZH2 99.41 0 Weaver syndrome EZR 99.63 0 Riecken et al., Hum Mut 2015 : ID HYCC1 98.81 0 Leukodystrophy, hypomyelinating, 5 FARS2 99.56 0 Combined oxidative phosphorylation deficiency 14 FAT4 99.39 0 Van Maldergem syndrome 2 FBXL4 99.46 0 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) FBXO31 93.34 0 Mental retardation, autosomal recessive 45 FGD1 98.23 0 Mental retardation, X-linked syndromic 16 FGFR1 99.69 0 Hypogonadotropic hypogonadism 2 with or without anosmia FGFR2 99.67 0 Saethre-Chotzen syndrome FGFR3 95.86 0 Crouzon syndrome with acanthosis nigricans FH 99.29 0 Fumarase deficiency FKRP 85.03 0 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 FKTN 99.13 0 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 FLNA 99.73 0 Heterotopia, periventricular FMN2 99.05 0 Mental retardation, autosomal recessive 47 FMR1 94.48 0 Fragile X tremor/ataxia syndrome FOLR1 99.69 0 Neurodegeneration due to cerebral folate transport deficiency FOXG1 84.20 0 Rett syndrome, congenital variant FOXP1 99.55 0 Mental retardation with language impairment and with or without autistic features FOXP2 99.34 0 Speech-language disorder-1 FOXRED1 99.63 0 Leigh syndrome due to mitochondrial complex I deficiency FRAS1 99.57 0 Fraser syndrome 1 FREM2 99.23 0 Fraser syndrome 2 FRMPD4 96.56 0 Mental retardation, X-linked 104 FTCD 95.82 0 Glutamate formiminotransferase deficiency FTL 99.55 0 Neurodegeneration with brain iron accumulation 3 FTO 99.47 0 Growth retardation, developmental delay, facial dysmorphism FTSJ1 99.69 0 Mental retardation, X-linked 9/44 FUCA1 98.18 0 Fucosidosis GABRA3 87.08 0 Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. GABRB3 94.66 0 Epileptic encephalopathy, early infantile, 43 GABRG2 99.57 0 Epilepsy, generalized, with febrile seizures plus, type 3 GALT 99.68 0 Galactosemia GAMT 93.42 0 Cerebral creatine deficiency syndrome 2 GAN 98.90 0 Giant axonal neuropathy-1 GATAD2B 99.69 0 Mental retardation, autosomal dominant 18 GATM 94.01 0 Cerebral creatine deficiency syndrome 3 GBE1 98.82 0 Glycogen storage disease IV GCH1 93.92 0 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia GCSH 86.02 0 Glycine encephalopathy GDI1 95.21 0 Mental retardation, X-linked 41 GFAP 99.69 0 Alexander disease GJC2 73.70 0 Leukodystrophy, hypomyelinating, 2 GLB1 99.56 0 GM1-gangliosidosis, type I GLDC 97.83 0 Glycine encephalopathy GLI2 98.60 0 Holoprosencephaly 9 GLI3 99.55 0 Greig cephalopolysyndactyly syndrome GLUL 99.68 0 Glutamine deficiency, congenital GLYCTK 99.69 0 D-glyceric aciduria GM2A 99.68 0 GM2-gangliosidosis, AB variant GMPPA 99.69 0 Alacrima, achalasia, and mental retardation syndrome GMPPB 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 GNAI3 99.08 0 Auriculocondylar syndrome 1 GNAO1 99.66 0 Epileptic encephalopathy, early infantile, 17 GNAS 97.96 0 Pseudohypoparathyroidism Ia GNPAT 97.06 0 Rhizomelic chondrodysplasia punctata, type 2 GNPTAB 99.49 0 Mucolipidosis II alpha/beta GNPTG 90.19 0 Mucolipidosis III gamma GNS 99.55 0 Mucopolysaccharidosis type IIID GPC3 91.66 0 Simpson-Golabi-Behmel syndrome, type 1 GPHN 99.58 0 Molybdenum cofactor deficiency C GPSM2 99.10 0 Chudley-McCullough syndrome GPT2 95.20 0 Mental retardation, autosomal recessive 49 GRIA3 89.99 0 Mental retardation, X-linked 94 GRID2 99.47 0 Spinocerebellar ataxia, autosomal recessive 18 GRIK2 99.13 0 Mental retardation, autosomal recessive, 6 GRIN1 99.54 0 Mental retardation, autosomal dominant 8 GRIN2A 99.68 0 Epilepsy, focal, with speech disorder and with or without mental retardation GRIN2B 99.66 0 Mental retardation, autosomal dominant 6 GRIP1 99.65 0 Fraser syndrome 3 GRM1 99.46 0 Spinocerebellar ataxia 44 GSS 99.59 0 Glutathione synthetase deficiency GTF2E2 98.86 0 Trichothiodystrophy 6, nonphotosensitive GTF2H5 99.64 0 Trichothiodystrophy 3, photosensitive GTPBP3 97.37 0 Combined oxidative phosphorylation deficiency 23 GUSB 98.73 0 Mucopolysaccharidosis VII HACE1 96.37 0 Spastic paraplegia and psychomotor retardation with or without seizures HCFC1 99.76 0 Spastic paraplegia and psychomotor retardation with or without seizures HCN1 94.14 0 Epileptic encephalopathy, early infantile, 24 HDAC4 99.68 0 Fisch et al., AJMG 2016 : ID HDAC8 99.17 0 Cornelia de Lange syndrome 5 HECW2 99.50 0 Neurodevelopmental disorder with hypotonia, seizures, and absent language HEPACAM 91.30 0 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation HERC1 99.49 0 Macrocephaly, dysmorphic facies, and psychomotor retardation HERC2 99.66 0 Mental retardation, autosomal recessive 38 HESX1 98.36 0 Growth hormone deficiency with pituitary anomalies HEXA 99.67 0 Tay-Sachs disease HEXB 97.84 0 Sandhoff disease, infantile, juvenile, and adult forms HGSNAT 94.00 0 Mucopolysaccharidosis type IIIC (Sanfilippo C) HIVEP2 99.60 0 Mental retardation, autosomal dominant 43 HLCS 99.60 0 Holocarboxylase synthetase deficiency HNMT 99.26 0 Mental retardation, autosomal recessive 51 HNRNPH2 99.85 0 Mental retardation, X-linked, syndromic, Bain type HNRNPK 99.17 0 Au-Kline syndrome HNRNPU 98.33 0 Epileptic encephalopathy, early infantile, 54 HOXA1 99.65 0 Athabaskan brainstem dysgenesis syndrome HPRT1 75.78 0 Lesch-Nyhan syndrome HRAS 99.69 0 Costello syndrome HSD17B10 99.97 0 HSD10 mitochondrial disease HSPG2 98.62 0 Dyssegmental dysplasia, Silverman-Handmaker type HUWE1 97.92 0 Mental retardation, X-linked syndromic, Turner type IARS1 99.32 0 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy IARS2 99.11 0 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia IDS 97.07 0 Mucopolysaccharidosis II IDUA 77.72 0 Mucopolysaccharidosis Ih/s IER3IP1 98.86 0 Microcephaly, epilepsy, and diabetes syndrome IFIH1 99.07 0 Aicardi-Goutieres syndrome 7 IFT172 99.62 0 Short-rib thoracic dysplasia 10 with or without polydactyly IFT27 99.69 0 Bardet-Biedl syndrome 19 IFT57 98.66 0 Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome IGF1 99.63 0 Growth retardation with deafness and mental retardation due to IGF1 deficiency IL1RAPL1 93.86 0 Mental retardation, X-linked 21/34 INPP5E 98.14 0 Joubert syndrome 1 INTU 98.49 0 Bruel et al., JMG 2017 : oro-facial-digital syndrome IQSEC2 97.05 0 Mental retardation, X-linked 1/78 IRX5 89.09 0 Hamamy syndrome CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ITGA7 99.67 0 Muscular dystrophy, congenital, due to ITGA7 deficiency ITPR1 99.38 0 Spinocerebellar ataxia 29, congenital nonprogressive JAM3 99.20 0 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts KANSL1 99.63 0 Koolen-De Vries syndrome KAT6A 99.60 0 Mental retardation, autosomal dominant 32 KAT6B 99.21 0 Genitopatellar syndrome KCNC1 99.05 0 Epilepsy, progressive myoclonic 7 KCNC3 76.28 0 Spinocerebellar ataxia 13 KCNH1 98.56 0 Temple-Baraitser syndrome KCNJ10 99.68 0 SESAME syndrome KCNJ11 99.69 0 Diabetes, permanent neonatal, with or without neurologic features KCNK9 99.67 0 Birk-Barel mental retardation dysmorphism syndrome KCNMA1 99.54 0 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy KCNQ2 98.93 0 Epileptic encephalopathy, early infantile, 7 KCNQ5 96.45 0 Mental retardation, autosomal dominant 46 KCNT1 98.70 0 Epileptic encephalopathy, early infantile, 14 KCTD7 95.20 0 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions KDM1A 96.83 0 Cleft palate, psychomotor retardation, and distinctive facial features KDM5C 99.87 0 Mental retardation, X-linked, syndromic, Claes-Jensen type KDM6A 94.07 0 Kabuki syndrome 2 KIAA0586 92.34 0 Joubert syndrome 23 KIAA0753 99.23 0 Orofaciodigital syndrome XV NEXMIF 97.66 0 Mental retardation, X-linked 98 KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation KIF1A 99.66 0 Mental retardation, autosomal dominant 9 KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome KIF4A 99.41 0 Mental retardation, X-linked 100 KIF5A 99.35 0 Myoclonus, intractable, neonatal KIF5C 96.19 0 Cortical dysplasia, complex, with other brain malformations 2 KIF7 99.42 0 Joubert syndrome 12 KIRREL3 99.66 0 Mental retardation, autosomal dominant 4 KLC2 99.69 0 Spastic paraplegia, optic atrophy, and neuropathy KMT2A 97.93 0 Wiedemann-Steiner syndrome KMT2C 99.31 0 Kleefstra syndrome 2 KMT2D 99.67 0 Kabuki syndrome 1 KMT2E 98.54 0 Dong et al., Cell Rep 2014 : trouble du spectre autistique KMT5B 99.31 0 Stessman et al., Nat Genet 2017 : autisme et retard développemental KNL1 92.70 0 Microcephaly 4, primary, autosomal recessive KPTN 99.37 0 Mental retardation, autosomal recessive 41 KRAS 99.32 0 Noonan syndrome 3 L1CAM 99.66 0 CRASH syndrome L2HGDH 98.45 0 L-2-hydroxyglutaric aciduria LAMA1 99.13 0 Poretti-Boltshauser syndrome LAMA2 99.46 0 Muscular dystrophy, congenital, due to partial LAMA2 deficiency LAMB1 99.50 0 Lissencephaly 5 LAMC3 97.99 0 Cortical malformations, occipital LAMP2 93.32 0 Danon disease LARGE1 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 LARP7 97.40 0 Alazami syndrome LAS1L 99.76 0 Wilson-Turner syndrome LIAS 98.94 0 Hyperglycinemia, lactic acidosis, and seizures LIG4 99.55 0 LIG4 syndrome LINS1 98.65 0 Mental retardation, autosomal recessive 27 LIPT1 98.69 0 Lipoyltransferase 1 deficiency LMBRD1 96.94 0 Methylmalonic aciduria and homocystinuria, cblF type LMNA 99.49 0 Emery-Dreifuss muscular dystrophy 3, AR LRP2 99.40 0 Donnai-Barrow syndrome LZTFL1 98.67 0 Bardet-Biedl syndrome 17 LZTR1 99.56 0 Noonan syndrome 10 MAGEL2 98.06 0 Schaaf-Yang syndrome MAN1B1 98.88 0 Mental retardation, autosomal recessive 15 MAN2B1 99.40 0 Mannosidosis, alpha-, types I and II MANBA 99.01 0 Mannosidosis, beta MAOA 85.51 0 Brunner syndrome MAP2K1 99.62 0 Cardiofaciocutaneous syndrome 3 MAP2K2 99.01 0 Cardiofaciocutaneous syndrome 4 MASP1 99.59 0 3MC syndrome 1 MAT1A 99.66 0 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MBD5 99.52 0 Mental retardation, autosomal dominant 1 MBOAT7 99.50 0 Mental retardation, autosomal recessive 57 MBTPS2 96.46 0 IFAP syndrome with or without BRESHECK syndrome MCCC1 99.50 0 3-Methylcrotonyl-CoA carboxylase 1 deficiency MCOLN1 93.43 0 Mucolipidosis IV MCPH1 98.40 0 Microcephaly 1, primary, autosomal recessive MECP2 89.77 0 Rett syndrome MED12 99.82 0 Opitz-Kaveggia syndrome MED13L 99.52 0 Mental retardation and distinctive facial features with or without cardiac defects MED17 98.79 0 Microcephaly, postnatal progressive, with seizures and brain atrophy MED23 98.87 0 Mental retardation, autosomal recessive 18 MEF2C 99.52 0 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations MEIS2 99.65 0 Cleft palate, cardiac defects, and mental retardation METTL23 99.62 0 Mental retardation, autosomal recessive 44 MFSD8 99.30 0 Ceroid lipofuscinosis, neuronal, 7 MID1 97.46 0 Opitz GBBB syndrome, type I MKKS 99.58 0 Bardet-Biedl syndrome 6 MKS1 99.54 0 Bardet-Biedl syndrome 13 MLYCD 87.33 0 Malonyl-CoA decarboxylase deficiency MMACHC 99.68 0 Methylmalonic aciduria and homocystinuria, cblC type MOCS1 99.68 0 Molybdenum cofactor deficiency A MOCS2 99.48 0 Molybdenum cofactor deficiency B MOGS 92.25 0 Congenital disorder of glycosylation, type IIb MPDU1 99.69 0 Congenital disorder of glycosylation, type If MPDZ 99.22 0 Hydrocephalus, nonsyndromic, autosomal recessive 2 MPLKIP 99.63 0 Trichothiodystrophy 4, nonphotosensitive MTFMT 97.00 0 Combined oxidative phosphorylation deficiency 15 MTHFR 99.58 0 Homocystinuria due to MTHFR deficiency MTM1 94.11 0 Myotubular myopathy, X-linked MTOR 99.61 0 Smith-Kingsmore syndrome MTR 99.55 0 Homocystinuria-megaloblastic anemia, cblG complementation type MTRR 99.33 0 Homocystinuria-megaloblastic anemia, cbl E type MVK 99.69 0 Mevalonic aciduria MYCN 82.91 0 Feingold syndrome 1 MYO5A 97.60 0 Griscelli syndrome, type 1 MYT1L 99.59 0 Mental retardation, autosomal dominant 39 NAA10 87.47 0 Ogden syndrome NACC1 99.66 0 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination NAGA 99.67 0 Schindler disease, type I NAGLU 84.28 0 Mucopolysaccharidosis type IIIB (Sanfilippo B) NALCN 99.38 0 Congenital contractures of the limbs and face, hypotonia, and developmental delay NARS2 98.96 0 Combined oxidative phosphorylation deficiency 24 NBN 98.67 0 Nijmegen breakage syndrome NDE1 99.69 0 Lissencephaly 4 (with microcephaly) NDP 99.56 0 Norrie disease NDST1 99.67 0 Mental retardation, autosomal recessive 46 NDUFA1 97.69 0 Mitochondrial complex I deficiency NDUFA11 99.69 0 Mitochondrial complex I deficiency NDUFA12 99.64 0 Leigh syndrome due to mitochondrial complex 1 deficiency NDUFA2 99.69 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFA9 99.27 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFAF6 89.55 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFS2 99.25 0 Mitochondrial complex I deficiency NDUFS3 99.67 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFS4 99.05 0 Mitochondrial complex I deficiency NDUFS7 99.38 0 Leigh syndrome NEDD4L 98.92 0 Periventricular nodular heterotopia 7 NFIA 99.44 0 Brain malformations and urinary tract defects NFIX 99.64 0 Sotos syndrome 2 NGF 99.66 0 Neuropathy, hereditary sensory and autonomic, type V NHEJ1 99.67 0 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NHP2 99.64 0 Dyskeratosis congenita, autosomal recessive 2 NHS 88.25 0 Nance-Horan syndrome NIN 99.20 0 Seckel syndrome 7 NIPBL 98.53 0 Cornelia de Lange syndrome 1 NKX2-1 92.05 0 Choreoathetosis, hypothyroidism, and neonatal respiratory distress NONO 98.37 0 Mental retardation, X-linked, syndromic 34 NOTCH1 96.74 0 Adams-Oliver syndrome 5 NPC1 98.34 0 Niemann-Pick disease, type C1 NPC2 99.67 0 Niemann-pick disease, type C2 NPHP1 99.24 0 Joubert syndrome 4 NPHP3 98.15 0 Meckel syndrome 7 NR2F1 86.66 0 Bosch-Boonstra-Schaaf optic atrophy syndrome NR5A1 99.25 0 Adrenocortical insufficiency NRAS 99.61 0 Noonan syndrome 6 NRXN1 99.52 0 Pitt-Hopkins-like syndrome 2 NSD1 99.26 0 Sotos syndrome 1 NSDHL 99.39 0 CHILD syndrome NSUN2 95.86 0 Mental retardation, autosomal recessive 5 OCLN 99.47 0 Pseudo-TORCH syndrome 1 OCRL 92.17 0 Lowe syndrome OFD1 92.99 0 Orofaciodigital syndrome I OGT 96.41 0 Mental retardation, X-linked 106 OPHN1 90.64 0 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance ORC1 99.49 0 Meier-Gorlin syndrome 1 ORC4 98.60 0 Meier-Gorlin syndrome 2 ORC6 98.10 0 Meier-Gorlin syndrome 3 OSGEP 99.65 0 Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome OTC 92.10 0 Ornithine transcarbamylase deficiency OTUD6B 97.03 0 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies PACS1 97.17 0 Schuurs-Hoeijmakers syndrome PAFAH1B1 98.98 0 Lissencephaly 1 PAH 99.66 0 Phenylketonuria PAK3 87.10 0 Mental retardation, X-linked 30/47 PANK2 95.75 0 Neurodegeneration with brain iron accumulation 1 PAX1 82.57 0 Otofaciocervical syndrome 2 PAX3 99.68 0 Craniofacial-deafness-hand syndrome PAX6 99.51 0 Aniridia PC 99.69 0 Pyruvate carboxylase deficiency PCDH19 99.22 0 Epileptic encephalopathy, early infantile, 9 PCGF2 99.69 0 Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental PCNT 99.50 0 Microcephalic osteodysplastic primordial dwarfism, type II PDE4D 97.76 0 Acrodysostosis 2, with or without hormone resistance PDHA1 97.16 0 Pyruvate dehydrogenase E1-alpha deficiency PDHB 99.40 0 Pyruvate dehydrogenase E1-beta deficiency PDHX 98.49 0 Lacticacidemia due to PDX1 deficiency PDSS1 82.84 0 Coenzyme Q10 deficiency, primary, 2 PDSS2 98.95 0 Coenzyme Q10 deficiency, primary, 3 PEPD 99.61 0 Prolidase deficiency PEX1 98.83 0 Peroxisome biogenesis disorder 1A (Zellweger) PEX10 83.86 0 Peroxisome biogenesis disorder 6A (Zellweger) PEX11B 99.63 0 Peroxisome biogenesis disorder 14B PEX12 99.40 0 Peroxisome biogenesis disorder 3A (Zellweger) PEX13 99.25 0 Peroxisome biogenesis disorder 11A (Zellweger) PEX14 99.66 0 Peroxisome biogenesis disorder 13A (Zellweger) PEX16 99.69 0 Peroxisome biogenesis disorder 8A (Zellweger) PEX19 99.60 0 Peroxisome biogenesis disorder 12A (Zellweger) PEX2 99.69 0 Peroxisome biogenesis disorder 5A (Zellweger) PEX26 96.96 0 Peroxisome biogenesis disorder 7A (Zellweger) PEX3 98.89 0 Peroxisome biogenesis disorder 10A (Zellweger) PEX5 99.15 0 Peroxisome biogenesis disorder 2A (Zellweger) PEX6 98.57 0 Peroxisome biogenesis disorder 4A (Zellweger) PEX7 90.36 0 Peroxisome biogenesis disorder 9B PGAP1 97.25 0 Mental retardation, autosomal recessive 42 PGAP2 99.68 0 Hyperphosphatasia with mental retardation syndrome 3 PGAP3 99.15 0 Hyperphosphatasia with mental retardation syndrome 4 PGK1 99.16 0 Phosphoglycerate kinase 1 deficiency PHC1 99.66 0 Microcephaly 11, primary, autosomal recessive PHF6 84.23 0 Borjeson-Forssman-Lehmann syndrome PHF8 99.04 0 Mental retardation syndrome, X-linked, Siderius type PHGDH 99.67 0 Phosphoglycerate dehydrogenase deficiency PHIP 95.93 0 Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies PIGA 92.30 0 Multiple congenital anomalies-hypotonia-seizures syndrome 2 PIGG 99.54 0 Mental retardation, autosomal recessive 53 PIGL 99.59 0 CHIME syndrome PIGN 97.78 0 Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGO 99.67 0 Hyperphosphatasia with mental retardation syndrome 2 PIGT 99.63 0 Multiple congenital anomalies-hypotonia-seizures syndrome 3 PIGV 99.66 0 Hyperphosphatasia with mental retardation syndrome 1 PIGW 99.68 0 Hyperphosphatasia with mental retardation syndrome 5 PIGY 99.66 0 Hyperphosphatasia with mental retardation syndrome 6 PIK3R2 91.70 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PLA2G6 99.69 0 Neurodegeneration with brain iron accumulation 2B PLCB1 99.15 0 Epileptic encephalopathy, early infantile, 12 PLCB4 99.09 0 Auriculocondylar syndrome 2 PLOD1 98.58 0 Ehlers-Danlos syndrome, type VI PLP1 99.86 0 Pelizaeus-Merzbacher disease PMM2 98.47 0 Congenital disorder of glycosylation, type Ia PNKP 99.68 0 Microcephaly, seizures, and developmental delay PNP 99.66 0 Immunodeficiency due to purine nucleoside phosphorylase deficiency POC1A 99.26 0 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis POGZ 98.81 0 White-Sutton syndrome POLG 99.59 0 Mitochondrial DNA depletion syndrome 4B (MNGIE type) POLH 99.55 0 Xeroderma pigmentosum, variant type POLR3A 99.40 0 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism POLR3B 99.29 0 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism POMGNT1 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 POMGNT2 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 POMK 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 POMT1 99.56 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 POMT2 98.42 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 PORCN 99.91 0 Focal dermal hypoplasia PPM1D 98.20 0 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold PPP1CB 99.40 0 Noonan syndrome-like disorder with loose anagen hair 2 PPP2R1A 99.69 0 Mental retardation, autosomal dominant 36 PPP2R5D 99.64 0 Mental retardation, autosomal dominant 35 PPT1 99.67 0 Ceroid lipofuscinosis, neuronal, 1 PQBP1 99.90 0 Renpenning syndrome PRICKLE1 99.67 0 Epilepsy, progressive myoclonic 1B PRMT7 99.21 0 Short stature, brachydactyly, intellectual developmental disability, and seizures PRPS1 98.61 0 Arts syndrome PRSS12 98.69 0 Mental retardation, autosomal recessive 1 PSAP 99.68 0 Krabbe disease, atypical PSMD12 99.44 0 Stankiewicz-Isidor syndrome PTCH1 97.64 0 Holoprosencephaly 7 PTCHD1 99.37 0 Autism, susceptibility to, X-linked 4 PTDSS1 99.56 0 Lenz-Majewski hyperostotic dwarfism PTEN 98.68 0 Cowden syndrome 1 PTPN11 97.30 0 LEOPARD syndrome 1 PUF60 99.56 0 Verheij syndrome PURA 84.89 0 Mental retardation, autosomal dominant 31 PUS1 93.31 0 Myopathy, lactic acidosis, and sideroblastic anemia 1 PYCR1 99.67 0 Cutis laxa, autosomal recessive, type IIB QDPR 96.67 0 Hyperphenylalaninemia, BH4-deficient, C RAB18 98.43 0 Warburg micro syndrome 3 RAB27A 95.80 0 Griscelli syndrome, type 2 RAB39B 99.96 0 Mental retardation, X-linked 72 RAB3GAP1 99.24 0 Warburg micro syndrome 1 RAB3GAP2 99.14 0 Martsolf syndrome RAC1 87.43 0 Mental retardation, autosomal dominant 48 RAD21 99.34 0 Cornelia de Lange syndrome 4 RAF1 99.65 0 Noonan syndrome 5 RAI1 97.85 0 Smith-Magenis syndrome RARB 99.52 0 Microphthalmia, syndromic 12 RARS2 99.20 0 Pontocerebellar hypoplasia, type 6 RASA2 95.15 0 Aoki et al., JHG 2016 : RASopathie RAX 78.51 0 Microphthalmia, isolated 3 RBBP8 96.69 0 Seckel syndrome 2 RBM10 99.86 0 TARP syndrome RBM28 99.55 0 Alopecia, neurologic defects, and endocrinopathy syndrome RBM8A 99.68 0 Thrombocytopenia-absent radius syndrome RBPJ 99.36 0 Adams-Oliver syndrome 3 RECQL4 91.13 0 Baller-Gerold syndrome RELN 99.47 0 Lissencephaly 2 (Norman-Roberts type) RERE 99.45 0 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart RFT1 97.48 0 Congenital disorder of glycosylation, type In RIT1 99.66 0 Noonan syndrome 8 RMND1 98.79 0 Combined oxidative phosphorylation deficiency 11 RNASEH2A 99.69 0 Aicardi-Goutieres syndrome 4 RNASEH2B 90.13 0 Aicardi-Goutieres syndrome 2 RNASEH2C 96.74 0 Aicardi-Goutieres syndrome 3 RNASET2 99.45 0 Leukoencephalopathy, cystic, without megalencephaly RNF113A 99.85 0 Trichothiodystrophy 5, nonphotosensitive ROGDI 90.00 0 Kohlschutter-Tonz syndrome RPGRIP1L 95.44 0 Joubert syndrome 7 RPIA 98.01 0 Ribose 5-phosphate isomerase deficiency RPS6KA3 85.79 0 Coffin-Lowry syndrome RRAS 94.39 0 Flex et al., HMG 2014 : RASopathie RTEL1 99.69 0 Dyskeratosis congenita, autosomal recessive 5 RTTN 98.71 0 Microcephaly, short stature, and polymicrogyria with seizures SALL1 99.68 0 Townes-Brocks branchiootorenal-like syndrome SAMHD1 99.47 0 Aicardi-Goutieres syndrome 5 SATB2 99.46 0 Glass syndrome SC5D 99.08 0 Lathosterolosis SCN1A 98.95 0 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) SCN2A 98.85 0 Epileptic encephalopathy, early infantile, 11 SCN8A 99.37 0 Epileptic encephalopathy, early infantile, 13 SCO2 99.68 0 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 SDCCAG8 99.19 0 Bardet-Biedl syndrome 16 SDHAF1 66.11 0 Mitochondrial complex II deficiency SEPSECS 99.07 0 Pontocerebellar hypoplasia type 2D SERAC1 98.98 0 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SETBP1 98.39 0 Mental retardation, autosomal dominant 29 SETD2 99.30 0 Luscan-Lumish syndrome SETD5 99.55 0 Mental retardation, autosomal dominant 23 SGSH 96.47 0 Mucopolysaccharidosis type IIIA (Sanfilippo A) SHANK2 83.77 0 Autism susceptibility 17 SHANK3 78.63 0 Phelan-McDermid syndrome SHH 90.25 0 Holoprosencephaly 3 SHOC2 97.89 0 Noonan-like syndrome with loose anagen hair SHROOM4 99.52 0 Stocco dos Santos X-linked mental retardation syndrome SIL1 99.65 0 Marinesco-Sjogren syndrome SIN3A 99.56 0 Witteveen-Kolk syndrome SIX3 89.54 0 Holoprosencephaly 2 SKI 93.23 0 Shprintzen-Goldberg syndrome SLC12A6 99.13 0 Agenesis of the corpus callosum with peripheral neuropathy SLC16A2 99.71 0 Allan-Herndon-Dudley syndrome SLC17A5 98.53 0 Salla disease SLC19A3 99.50 0 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) SLC1A4 97.40 0 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly SLC25A1 86.05 0 Combined D-2- and L-2-hydroxyglutaric aciduria SLC25A12 99.45 0 Epileptic encephalopathy, early infantile, 39 SLC25A15 99.57 0 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome SLC25A19 99.66 0 Microcephaly, Amish type SLC25A22 99.68 0 Epileptic encephalopathy, early infantile, 3 SLC2A1 93.34 0 GLUT1 deficiency syndrome 1, infantile onset, severe SLC33A1 98.70 0 Congenital cataracts, hearing loss, and neurodegeneration SLC35A2 99.98 0 Congenital disorder of glycosylation, type IIm SLC35C1 99.69 0 Congenital disorder of glycosylation, type IIc SLC45A1 92.61 0 Intellectual developmental disorder with neuropsychiatric features SLC46A1 97.75 0 Folate malabsorption, hereditary SLC4A4 99.23 0 Renal tubular acidosis, proximal, with ocular abnormalities SLC6A1 99.61 0 Myoclonic-atonic epilepsy SLC6A17 99.68 0 Mental retardation, autosomal recessive 48 SLC6A3 99.68 0 Parkinsonism-dystonia, infantile SLC6A8 92.97 0 Cerebral creatine deficiency syndrome 1 SLC7A7 99.67 0 Lysinuric protein intolerance SLC9A6 80.47 0 Mental retardation, X-linked syndromic, Christianson type SMARCA2 97.63 0 Nicolaides-Baraitser syndrome SMARCA4 99.68 0 Coffin-Siris syndrome 4 SMARCB1 99.47 0 Coffin-Siris syndrome 3 SMARCE1 98.87 0 Coffin-Siris syndrome 5 SMC1A 97.41 0 Cornelia de Lange syndrome 2 SMC3 98.62 0 Cornelia de Lange syndrome 3 SMOC1 98.99 0 Microphthalmia with limb anomalies SMPD1 99.68 0 Niemann-Pick disease, type A SMS 83.70 0 Mental retardation, X-linked, Snyder-Robinson type SNAP29 98.97 0 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome SNIP1 99.59 0 Psychomotor retardation, epilepsy, and craniofacial dysmorphism SNX14 97.83 0 Spinocerebellar ataxia, autosomal recessive 20 SOBP 96.13 0 Mental retardation, anterior maxillary protrusion, and strabismus SON 99.42 0 ZTTK syndrome SOS1 98.22 0 Noonan syndrome 4 SOS2 98.32 0 Noonan syndrome 9 SOX10 93.26 0 Waardenburg syndrome, type 2E, with or without neurologic involvement SOX11 84.37 0 Mental retardation, autosomal dominant, 27 SOX2 95.94 0 Optic nerve hypoplasia and abnormalities of the central nervous system SOX5 99.56 0 Lamb-Shaffer syndrome AFG2A 98.88 0 Epilepsy, hearing loss, and mental retardation syndrome SPECC1L 99.49 0 Opitz GBBB syndrome, type II SPR 77.10 0 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency SPRED1 99.22 0 Legius syndrome SPTAN1 99.48 0 Epileptic encephalopathy, early infantile, 5 SRCAP 99.65 0 Floating-Harbor syndrome SRD5A3 96.86 0 Congenital disorder of glycosylation, type Iq ST3GAL3 99.66 0 Mental retardation, autosomal recessive 12 ST3GAL5 85.32 0 Salt and pepper developmental regression syndrome STAG1 98.01 0 Mental retardation, autosomal dominant 47 STAMBP 99.58 0 Microcephaly-capillary malformation syndrome STIL 99.24 0 Microcephaly 7, primary, autosomal recessive STRA6 99.67 0 Microphthalmia, syndromic 9 STT3A 99.55 0 Congenital disorder of glycosylation, type Iw STT3B 95.54 0 Congenital disorder of glycosylation, type Ix STX1B 99.68 0 Generalized epilepsy with febrile seizures plus, type 9 STXBP1 99.55 0 Epileptic encephalopathy, early infantile, 4 SUCLG1 98.06 0 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) SUOX 99.68 0 Sulfite oxidase deficiency SURF1 86.96 0 Leigh syndrome, due to COX IV deficiency SYN1 88.25 0 Epilepsy, X-linked, with variable learning disabilities and behavior disorders SYNCRIP 99.45 0 Lelieveld et al., Nat Neurosci 2016 : ID SYNE1 99.44 0 Spinocerebellar ataxia, autosomal recessive 8 SYNGAP1 99.68 0 Mental retardation, autosomal dominant 5 SYP 93.14 0 Mental retardation, X-linked 96 SYT14 88.69 0 Spinocerebellar ataxia, autosomal recessive 11 TAF1 97.05 0 Mental retardation, X-linked, syndromic 33 TAF2 98.57 0 Mental retardation, autosomal recessive 40 TBC1D23 97.70 0 Pontocerebellar hypoplasia, type 11 TBC1D24 99.68 0 Epileptic encephalopathy, early infantile, 16 TBC1D7 98.94 0 Macrocephaly/megalencephaly syndrome, autosomal recessive TBCE 98.41 0 Hypoparathyroidism-retardation-dysmorphism syndrome TBCK 98.05 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 TBL1XR1 98.00 0 Mental retardation, autosomal dominant 41 TCF20 99.69 0 Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie TCF4 99.65 0 Pitt-Hopkins syndrome TCOF1 99.61 0 Treacher Collins syndrome 1 TCTN1 99.08 0 Joubert syndrome 13 TCTN2 99.05 0 Joubert syndrome 24 TCTN3 99.61 0 Joubert syndrome 18 TECPR2 99.41 0 Spastic paraplegia 49, autosomal recessive TECR 99.69 0 Mental retardation, autosomal recessive 14 TFAP2A 99.48 0 Branchiooculofacial syndrome TGIF1 99.69 0 Holoprosencephaly 4 TH 98.57 0 Segawa syndrome, recessive THOC2 91.08 0 Mental retardation, X-linked 12/35 THOC6 99.66 0 Beaulieu-Boycott-Innes syndrome THRA 99.60 0 Hypothyroidism, congenital, nongoitrous, 6 TIMM8A 99.66 0 Mohr-Tranebjaerg syndrome TINF2 99.67 0 Dyskeratosis congenita, autosomal dominant 3 TMCO1 95.48 0 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome TMEM107 99.69 0 Orofaciodigital syndrome XVI TMEM138 99.68 0 Joubert syndrome 16 TMEM165 87.14 0 Congenital disorder of glycosylation, type IIk TMEM216 99.69 0 Joubert syndrome 2 TMEM231 99.62 0 Joubert syndrome 20 TMEM237 97.88 0 Joubert syndrome 14 TMEM67 97.57 0 Joubert syndrome 6 TMEM70 97.01 0 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 TNK2 99.30 0 Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID TPK1 98.92 0 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) TPP1 99.65 0 Spinocerebellar ataxia, autosomal recessive 7 TRAPPC11 98.70 0 Muscular dystrophy, limb-girdle, type 2S TRAPPC9 99.57 0 Mental retardation, autosomal recessive 13 TREX1 99.69 0 Aicardi-Goutieres syndrome 1, dominant and recessive TRIM32 99.68 0 Bardet-Biedl syndrome 11 TRIO 97.17 0 Mental retardation, autosomal dominant 44 TRIP12 99.18 0 Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. TRMT10A 99.08 0 Microcephaly, short stature, and impaired glucose metabolism 1 TRMU 94.99 0 Liver failure, transient infantile TRPV4 99.64 0 Spondylometaphyseal dysplasia, Kozlowski type TSEN2 99.60 0 Pontocerebellar hypoplasia type 2B TSEN54 87.28 0 Pontocerebellar hypoplasia type 2A TSFM 85.15 0 Combined oxidative phosphorylation deficiency 3 TSPAN7 98.69 0 Mental retardation, X-linked 58 SKIC3 99.17 0 Trichohepatoenteric syndrome 1 TTC8 98.67 0 Bardet-Biedl syndrome 8 TTI2 99.57 0 Mental retardation, autosomal recessive 39 TUBA1A 99.69 0 Lissencephaly 3 TUBA8 97.24 0 Cortical dysplasia, complex, with other brain malformations 8 TUBB2A 95.11 0 Cortical dysplasia, complex, with other brain malformations 5 TUBB2B 99.68 0 Cortical dysplasia, complex, with other brain malformations 7 TUBB3 94.69 0 Cortical dysplasia, complex, with other brain malformations 1 TUBB4A 98.34 0 Leukodystrophy, hypomyelinating, 6 TUBG1 99.69 0 Cortical dysplasia, complex, with other brain malformations 4 TUBGCP6 99.69 0 Microcephaly and chorioretinopathy, autosomal recessive, 1 TUSC3 99.45 0 Mental retardation, autosomal recessive 7 TWIST1 59.51 0 Saethre-Chotzen syndrome UBE2A 81.32 0 Mental retardation, X-linked syndromic, Nascimento-type UBE3A 98.84 0 Angelman syndrome UBE3B 99.43 0 Kaufman oculocerebrofacial syndrome UBR1 98.99 0 Johanson-Blizzard syndrome UNC80 99.46 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 UPF3B 90.82 0 Mental retardation, X-linked, syndromic 14 UQCRQ 99.62 0 Mitochondrial complex III deficiency, nuclear type 4 UROC1 99.69 0 Urocanase deficiency USP18 99.69 0 Pseudo-TORCH syndrome 2 USP9X 93.59 0 Mental retardation, X-linked 99 VLDLR 97.10 0 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 VPS13B 98.95 0 Cohen syndrome VRK1 99.08 0 Pontocerebellar hypoplasia type 1A WAC 97.24 0 Desanto-Shinawi syndrome WDPCP 98.77 0 Bardet-Biedl syndrome 15 WDR26 99.46 0 Skraban-Deardorff syndrome WDR45 99.94 0 Neurodegeneration with brain iron accumulation 5 WDR45B 98.84 0 Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia WDR62 99.58 0 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations WDR73 99.54 0 Galloway-Mowat syndrome WDR81 99.65 0 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 WWOX 99.63 0 Epileptic encephalopathy, early infantile, 28 XPA 95.49 0 Xeroderma pigmentosum, group A XPC 99.66 0 Xeroderma pigmentosum, group C XYLT1 91.40 0 Desbuquois dysplasia 2 YAP1 95.59 0 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation YY1 97.61 0 Gabriele-de Vries syndrome ZBTB16 99.69 0 Skeletal defects, genital hypoplasia, and mental retardation ZBTB18 99.10 0 Mental retardation, autosomal dominant 22 ZBTB20 99.63 0 Primrose syndrome ZBTB24 99.63 0 Immunodeficiency-centromeric instability-facial anomalies syndrome-2 ZC4H2 97.81 0 Wieacker-Wolff syndrome ZDHHC9 98.90 0 Mental retardation, X-linked syndromic, Raymond type ZEB2 99.54 0 Mowat-Wilson syndrome ZFYVE26 99.53 0 Spastic paraplegia 15, autosomal recessive ZIC2 67.20 0 Holoprosencephaly 5 ZMPSTE24 98.68 0 Mandibuloacral dysplasia with type B lipodystrophy ZMYND11 99.50 0 Mental retardation, autosomal dominant 30 ZNF335 99.63 0 Microcephaly 10, primary, autosomal recessive ZNF41 99.90 0 Shoichet et al., AJHG 2013 : X-Linked Mental Retardation ZNF711 89.61 0 Mental retardation, X-linked 97 -
Skeletal dysplasia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALPL 100.00 1 ALX3 100.00 1 ARID1A 99.99 1 B3GALT6 92.42 1 CDC73 99.98 1 COL11A1 99.99 1 COL9A2 100.00 1 CTSK 100.00 1 DDR2 100.00 1 DHCR24 100.00 1 DVL1 100.00 1 FAM20B 100.00 1 FUCA1 100.00 1 GNAI3 99.99 1 GNPAT 99.96 1 GORAB 99.99 1 HHAT 100.00 1 HS2ST1 99.93 1 HSPG2 99.99 1 IARS2 100.00 1 LBR 99.99 1 LMNA 100.00 1 NLRP3 100.00 1 NMNAT1 95.03 1 NOTCH2 100.00 1 NRAS 99.97 1 ORC1 100.00 1 P3H1 100.00 1 PHGDH 100.00 1 PIGV 100.00 1 PLOD1 100.00 1 POLR3GL 100.00 1 PRKACB 100.00 1 PRRX1 100.00 1 RBM8A 100.00 1 SDCCAG8 99.99 1 SF3B4 100.00 1 SKI 100.00 1 SLC25A24 99.30 1 SLC35D1 99.68 1 TBCE 100.00 1 TBX15 100.00 1 TGFB2 100.00 1 TMCO1 99.91 1 TMEM53 100.00 1 ZMPSTE24 99.99 1 CHST3 100.00 1 DNA2 99.99 1 FBXW4 98.98 1 FGFR2 100.00 1 KAT6B 100.00 1 KIF5B 99.93 1 PAPSS2 99.93 1 POLR3A 100.00 1 SLC29A3 100.00 1 SMC3 99.98 1 TCTN3 100.00 1 ALG9 94.06 1 ALX4 100.00 1 ANO5 100.00 1 ARCN1 100.00 1 B3GAT3 94.88 1 BANF1 100.00 1 BBS1 100.00 1 C2CD3 99.99 1 CDKN1C 100.00 1 CREB3L1 100.00 1 CYP2R1 98.84 1 DPAGT1 100.00 1 DYNC2H1 99.84 1 EED 100.00 1 EXT2 100.00 1 FAM111A 100.00 1 FAR1 99.98 1 FERMT3 100.00 1 HRAS 100.00 1 IFITM5 100.00 1 INPPL1 99.93 1 LRP4 100.00 1 LRP5 100.00 1 LTBP3 100.00 1 MMP13 99.99 1 NADSYN1 100.00 1 PIK3C2A 99.99 1 PLCB3 100.00 1 RASGRP2 100.00 1 SERPINH1 100.00 1 SLC39A13 100.00 1 TCIRG1 100.00 1 TMEM138 100.00 1 TMEM216 100.00 1 ABCC9 99.99 1 ALX1 100.00 1 ATP6V0A2 100.00 1 BBS10 100.00 1 CEP290 99.84 1 CHST11 100.00 1 COL2A1 100.00 1 CYP27B1 100.00 1 FGF23 100.00 1 GDF3 100.00 1 GNPTAB 100.00 1 GNS 100.00 1 IFT81 94.63 1 LEMD3 100.00 1 MAPKAPK5 100.00 1 MGP 100.00 1 PDE3A 100.00 1 PEX5 100.00 1 POLE 100.00 1 POLR3B 99.98 1 PTHLH 100.00 1 PTPN11 99.98 1 RFLNA 99.50 1 SP7 100.00 1 TBX3 100.00 1 TBX5 100.00 1 TCTN1 94.52 1 TCTN2 99.95 1 TRPV4 100.00 1 VDR 99.44 1 VPS33A 95.74 1 WNT1 100.00 1 WNT10B 100.00 1 FGF9 99.98 1 GPC6 100.00 1 KL 98.69 1 POLR1D 99.94 1 TGDS 99.99 1 TNFSF11 100.00 1 AKT1 100.00 1 GNPNAT1 99.99 1 GSC 100.00 1 IFT43 100.00 1 KIAA0586 95.70 1 LTBP2 100.00 1 MMP14 100.00 1 SEC23A 99.98 1 SIX1 100.00 1 SMOC1 100.00 1 SRP54 99.97 1 TGFB3 100.00 1 LYSET 100.00 1 TRIP11 99.98 1 TTC8 99.96 1 ACAN 98.67 1 ADAMTS17 98.97 1 BBS4 100.00 1 CEP152 99.99 1 CHST14 99.49 1 CHSY1 99.98 1 DLL4 100.00 1 EFL1 100.00 1 FBN1 100.00 1 FMN1 100.00 1 GREM1 100.00 1 IDH2 99.93 1 KIF7 99.98 1 LRRK1 100.00 1 MAP2K1 100.00 1 MESD 100.00 1 MESP2 100.00 1 PPIB 100.00 1 SMAD3 100.00 1 SMAD6 100.00 1 TCF12 100.00 1 ANKRD11 100.00 1 BBS2 100.00 1 CBFB 100.00 1 CDH3 100.00 1 CDK10 100.00 1 CDT1 99.07 1 CLCN7 99.78 1 COG4 100.00 1 CREBBP 100.00 1 DHODH 100.00 1 GALNS 100.00 1 GINS2 100.00 1 GNPTG 99.45 1 IFT140 100.00 1 KIF22 100.00 1 MBTPS1 100.00 1 MMP2 100.00 1 ORC6 99.99 1 PAM16 100.00 1 PRMT7 99.99 1 RPGRIP1L 98.82 1 RPL13 100.00 1 RSPRY1 100.00 1 SALL1 100.00 1 TBC1D24 100.00 1 TBX6 100.00 1 TMEM231 100.00 1 TRAF7 100.00 1 VAC14 100.00 1 XYLT1 98.81 1 ACTG1 100.00 1 BHLHA9 99.55 1 CANT1 99.97 1 CDC6 100.00 1 COG1 100.00 1 COL1A1 100.00 1 DLX3 100.00 1 EFTUD2 100.00 1 EIF4A3 99.99 1 FKBP10 100.00 1 FZD2 100.00 1 HES7 100.00 1 KCNJ2 100.00 1 KIAA0753 100.00 1 MEOX1 100.00 1 MKS1 100.00 1 MYH3 100.00 1 NAGLU 99.96 1 NF1 99.98 1 NOG 100.00 1 NXN 100.00 1 P4HB 100.00 1 PLEKHM1 100.00 1 PRKAR1A 100.00 1 PYCR1 100.00 1 SERPINF1 100.00 1 SGSH 100.00 1 SMARCE1 99.97 1 SOST 100.00 1 SOX9 100.00 1 SUZ12 99.97 1 TBX4 99.45 1 WNT3 100.00 1 XYLT2 100.00 1 DYM 99.99 1 LPIN2 99.99 1 RBBP8 99.96 1 SMAD2 100.00 1 SMAD4 100.00 1 SMCHD1 99.97 1 TNFRSF11A 97.91 1 ACP5 100.00 1 ADAMTS10 100.00 1 AKT2 100.00 1 APC2 99.99 1 B9D2 100.00 1 CCDC8 100.00 1 COMP 100.00 1 DLL3 99.85 1 DOCK6 100.00 1 EPS15L1 100.00 1 ERF 100.00 1 FUZ 100.00 1 GPX4 96.50 1 LONP1 100.00 1 MAN2B1 100.00 1 MEGF8 99.96 1 NFIX 99.97 1 PRKACA 100.00 1 SMARCA4 100.00 1 TGFB1 100.00 1 TYROBP 100.00 1 UBA2 99.97 1 ACVR1 100.00 1 AFF3 100.00 1 AGPS 99.76 1 ANAPC1 99.82 1 ARHGAP25 100.00 1 BBS5 99.97 1 CKAP2L 100.00 1 COLEC11 100.00 1 CRIPT 100.00 1 CYP26B1 100.00 1 DNMT3A 100.00 1 DYNC2LI1 100.00 1 EIF2AK3 99.96 1 EN1 100.00 1 EXOC6B 99.77 1 FN1 100.00 1 FOSL2 100.00 1 GALNT3 99.99 1 GLI2 100.00 1 HAAO 100.00 1 HDAC4 100.00 1 HOXD13 100.00 1 IDH1 100.00 1 IFIH1 99.99 1 IFT172 100.00 1 IHH 100.00 1 IL1RN 100.00 1 KYNU 99.99 1 LTBP1 100.00 1 MAP3K20 100.00 1 MATN3 99.95 1 MTX2 99.95 1 MYCN 99.97 1 NBAS 100.00 1 NPPC 100.00 1 OBSL1 99.99 1 ORC4 100.00 1 PAX3 100.00 1 PKDCC 99.76 1 POLR1A 100.00 1 POLR1B 100.00 1 SIX2 100.00 1 SMARCAL1 100.00 1 TMEM237 99.98 1 TRAF3IP1 100.00 1 TTC21B 99.97 1 WDPCP 91.91 1 WDR35 99.99 1 WNT6 100.00 1 ASXL1 100.00 1 BMP2 99.98 1 COL9A3 100.00 1 CTSA 100.00 1 DDRGK1 100.00 1 DPM1 97.07 1 ELMO2 100.00 1 GDF5 100.00 1 GNAS 100.00 1 GZF1 100.00 1 IFT52 100.00 1 LAMA5 99.87 1 MAFB 100.00 1 MKKS 99.98 1 MMP9 100.00 1 PLCB4 100.00 1 SALL4 100.00 1 SNRPB 100.00 1 CFAP410 100.00 1 DONSON 99.81 1 PCNT 100.00 1 ALG12 100.00 1 CCDC134 100.00 1 CDC45 100.00 1 EP300 100.00 1 FBLN1 99.89 1 MCM5 100.00 1 MYO18B 100.00 1 PISD 100.00 1 SMARCB1 100.00 1 SPECC1L 100.00 1 ALG3 100.00 1 ARHGAP31 100.00 1 ARL6 100.00 1 ATR 99.98 1 CASR 100.00 1 COPB2 100.00 1 CRTAP 99.90 1 DVL3 100.00 1 DYNLT2B 100.00 1 EOGT 99.99 1 FLNB 100.00 1 GLB1 100.00 1 HYAL1 100.00 1 IFT122 100.00 1 IFT80 99.94 1 LMOD3 100.00 1 MASP1 100.00 1 MECOM 100.00 1 NEPRO 99.99 1 PCYT1A 100.00 1 PIK3CA 99.97 1 PLOD2 99.95 1 POC1A 100.00 1 PTH1R 100.00 1 SETD2 99.99 1 SLCO2A1 100.00 1 SUMF1 100.00 1 TGFBR2 100.00 1 THPO 100.00 1 TOP2B 99.85 1 TP63 99.99 1 TRAIP 100.00 1 WNT5A 100.00 1 WNT7A 100.00 1 ZIC1 100.00 1 AGA 100.00 1 ANTXR2 100.00 1 BBS12 100.00 1 BBS7 99.97 1 BMPR1B 100.00 1 CC2D2A 98.21 1 CENPE 99.92 1 DMP1 100.00 1 DSPP 100.00 1 EDNRA 100.00 1 EVC 96.08 1 EVC2 100.00 1 FGFR3 100.00 1 HPGD 99.99 1 IDUA 99.84 1 INTU 100.00 1 MAB21L2 100.00 1 MANBA 99.99 1 NEK1 99.99 1 NKX3-2 100.00 1 PRKG2 99.98 1 RAB33B 100.00 1 RBPJ 100.00 1 SEC24D 100.00 1 SGMS2 100.00 1 SH3BP2 98.03 1 SLC10A7 100.00 1 TAPT1 98.76 1 TMEM165 99.97 1 UFSP2 99.99 1 WDR19 99.94 1 ANKH 100.00 1 ARSB 99.92 1 ARSK 99.98 1 B4GALT7 99.95 1 BNIP1 100.00 1 CEP120 99.96 1 CPLANE1 99.97 1 CSF1R 100.00 1 DNAJC21 100.00 1 FBN2 99.99 1 FGF10 100.00 1 HSPA9 100.00 1 IL6ST 99.99 1 KIAA0825 99.99 1 LIFR 99.94 1 MSX2 100.00 1 NIPBL 99.91 1 NPR3 100.00 1 NSD1 100.00 1 PDE4D 99.99 1 PDGFRB 100.00 1 PITX1 100.00 1 SH3PXD2B 100.00 1 SLC26A2 100.00 1 SPARC 100.00 1 SQSTM1 100.00 1 TCOF1 100.00 1 XRCC4 100.00 1 ZSWIM6 97.48 1 ARID1B 99.51 1 CCN6 100.00 1 CILK1 99.92 1 COL10A1 100.00 1 COL11A2 100.00 1 COL9A1 99.99 1 CUL7 100.00 1 DSE 99.66 1 EDN1 100.00 1 ENPP1 99.27 1 FIG4 100.00 1 FOXC1 99.89 1 GCM2 100.00 1 GJA1 100.00 1 GMNN 99.99 1 ID4 97.95 1 MAP3K7 100.00 1 MCM3 100.00 1 NEU1 100.00 1 OSTM1 99.96 1 PEX7 100.00 1 PGM3 100.00 1 POLR1C 97.57 1 RAB23 100.00 1 RIPPLY2 99.85 1 RUNX2 100.00 1 SCUBE3 100.00 1 SLC17A5 99.99 1 SLC35B2 100.00 1 TAB2 100.00 1 TENT5A 100.00 1 TFAP2B 100.00 1 TREM2 100.00 1 ACTB 100.00 1 BBS9 99.96 1 BMPER 100.00 1 COL1A2 100.00 1 CYP3A4 99.94 1 DLX5 100.00 1 DLX6 100.00 1 DYNC2I1 96.68 1 EZH2 99.98 1 FAM20C 99.99 1 FKBP14 99.95 1 GLI3 100.00 1 GUSB 100.00 1 HOXA11 100.00 1 HOXA13 96.84 1 KDELR2 100.00 1 LFNG 94.20 1 LMBR1 99.96 1 MCM7 100.00 1 MET 100.00 1 MNX1 87.84 1 POR 100.00 1 RINT1 99.95 1 SBDS 100.00 1 SFRP4 100.00 1 SHH 100.00 1 SLC4A2 100.00 1 SMO 99.99 1 SNX10 99.97 1 TBXAS1 99.99 1 TRPV6 99.41 1 TWIST1 100.00 1 ASAH1 99.99 1 BMP1 100.00 1 BPNT2 100.00 1 CA2 100.00 1 COLEC10 100.00 1 CSGALNACT1 100.00 1 CSPP1 99.99 1 ESCO2 99.74 1 EXT1 100.00 1 EXTL3 100.00 1 FGFR1 100.00 1 GDF6 99.99 1 HGSNAT 96.79 1 NSMCE2 100.00 1 POP1 100.00 1 PTDSS1 100.00 1 RAD21 100.00 1 RECQL4 99.80 1 RSPO2 100.00 1 SLCO5A1 100.00 1 SULF1 100.00 1 TMEM67 99.30 1 TNFRSF11B 100.00 1 TONSL 100.00 1 TRPS1 100.00 1 ABL1 100.00 1 ADAMTSL2 100.00 1 COL27A1 100.00 1 RIGI 99.97 1 DYNC2I2 100.00 1 HNRNPK 100.00 1 IL11RA 100.00 1 LMX1B 100.00 1 MTAP 100.00 1 NANS 100.00 1 NOTCH1 100.00 1 NPR2 100.00 1 ROR2 99.98 1 SLC34A3 100.00 1 TGFBR1 100.00 1 TMEM38B 100.00 1 TRIM32 100.00 1 VCP 100.00 1 ZNF462 100.00 1 AIFM1 100.00 1 AMER1 100.00 1 ARSL 100.00 1 ATP7A 100.00 1 BGN 100.00 1 CCNQ 99.81 1 CLCN5 100.00 1 EBP 100.00 1 EFNB1 100.00 1 FANCB 100.00 1 FGD1 100.00 1 FGF16 100.00 1 FLNA 100.00 1 GPC3 100.00 1 GPC4 100.00 1 HDAC8 100.00 1 IDS 100.00 1 IKBKG 100.00 1 MBTPS2 100.00 1 MID1 100.00 1 NSDHL 100.00 1 OFD1 100.00 1 PHEX 99.99 1 PLS3 100.00 1 PORCN 100.00 1 SHOX 94.83 1 SMC1A 100.00 1 SMS 100.00 1 TRAPPC2 100.00 1 ZIC3 100.00 1